1 |
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
6
56
61
54
24
|
Swango KL...Wolf B
|
9654207 |
1998 |
2 |
Profound biotinidase deficiency in two asymptomatic adults.
61
54
6
56
24
|
Wolf B...Hymes J
|
9375914 |
1997 |
3 |
Novel mutations cause biotinidase deficiency in Turkish children.
54
6
56
61
|
Pomponio RJ...Wolf B
|
10801053 |
2000 |
4 |
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
6
56
61
54
|
Norrgard KJ...Wolf B
|
10400129 |
1999 |
5 |
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
61
54
56
6
|
Pomponio RJ...Wolf B
|
7550325 |
1995 |
6 |
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
61
54
56
24
|
Sivri HS...Wolf B
|
17382128 |
2007 |
7 |
Statistical approaches for the detection of heterozygotes for biotinidase deficiency.
61
54
56
24
|
Weissbecker KA...Wolf B
|
1877614 |
1991 |
8 |
Human serum biotinidase. cDNA cloning, sequence, and characterization.
24
6
61
|
Cole H...Wolf B
|
7509806 |
1994 |
9 |
Biotinidase deficiency: a survey of 10 cases.
61
24
56
|
Wastell HJ...Shein A
|
3196050 |
1988 |
10 |
Biotinidase deficiency: initial clinical features and rapid diagnosis.
24
61
56
|
Wolf B...Leshner RT
|
4073853 |
1985 |
11 |
Biotinidase deficiency: a novel vitamin recycling defect.
61
56
24
|
Wolf B...Heard GS
|
3930841 |
1985 |
12 |
Hearing loss in biotinidase deficiency.
24
61
56
|
|
6139700 |
1983 |
13 |
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
61
54
56
|
Muhl A...Stockler-Ipsiroglu S
|
11313766 |
2001 |
14 |
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
6
54
61
|
Pomponio RJ...Wolf B
|
9705240 |
1998 |
15 |
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
54
61
56
|
Pomponio RJ...Wolf B
|
9396567 |
1997 |
16 |
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
6
61
54
|
Pomponio RJ...Wolf B
|
9158148 |
1997 |
17 |
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.
6
54
61
|
Pomponio RJ...Wolf B
|
9099842 |
1997 |
18 |
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.
6
61
54
|
Pomponio RJ...Wolf B
|
8894703 |
1996 |
19 |
Infantile spasms as the initial symptom of biotinidase deficiency.
61
56
54
|
Kalayci O...Ozalp I
|
8283357 |
1994 |
20 |
Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.
54
56
61
|
Hart PS...Wolf B
|
1729884 |
1992 |
21 |
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
56
54
61
|
Suormala TM...Schweitzer S
|
2109151 |
1990 |
22 |
Clinical utility gene card for: biotinidase deficiency.
61
6
|
Kury S...Wolf B
|
22378278 |
2012 |
23 |
Clinical issues and frequent questions about biotinidase deficiency.
54
61
24
|
Wolf B
|
20129807 |
2010 |
24 |
Profound biotinidase deficiency in a child with predominantly spinal cord disease.
61
54
24
|
Chedrawi AK...Wolf B
|
18645204 |
2008 |
25 |
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
61
24
54
|
Baykal T...Wolf B
|
16435182 |
2005 |
26 |
Biotinidase deficiency: a treatable leukoencephalopathy.
24
61
54
|
Grunewald S...Morris AA
|
15328559 |
2004 |
27 |
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.
54
61
24
|
Weber P...Baumgartner ER
|
15230462 |
2004 |
28 |
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
24
54
61
|
Neto EC...Wolf B
|
15060693 |
2004 |
29 |
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.
24
61
54
|
Moslinger D...Stockler-Ipsiroglu S
|
14628140 |
2003 |
30 |
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
54
24
61
|
Wolf B...Gleason T
|
11865279 |
2002 |
31 |
Mutations in BTD causing biotinidase deficiency.
56
61
|
Hymes J...Wolf B
|
11668630 |
2001 |
32 |
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
54
61
24
|
Moslinger D...Baumgartner ER
|
11388594 |
2001 |
33 |
Biotinidase Deficiency
61
6
|
Wolf B
|
20301497 |
2000 |
34 |
Delayed-onset profound biotinidase deficiency.
24
61
54
|
Wolf B...Hymes J
|
9506660 |
1998 |
35 |
Biotinidase deficiency in Scotland.
56
61
|
Minns RA...Kirk J
|
8050627 |
1994 |
36 |
Characterization of seizures associated with biotinidase deficiency.
54
61
24
|
Salbert BA...Wolf B
|
8327137 |
1993 |
37 |
Ophthalmologic findings in biotinidase deficiency.
24
54
61
|
Salbert BA...Wolf B
|
8278163 |
1993 |
38 |
Cerebral metabolic change after treatment in biotinidase deficiency.
24
54
61
|
Lott IT...Buchsbaum MJ
|
8412000 |
1993 |
39 |
A biotinidase Km variant causing late onset bilateral optic neuropathy.
61
24
54
|
Ramaekers VT...Baumgartner ER
|
1739323 |
1992 |
40 |
Worldwide survey of neonatal screening for biotinidase deficiency.
54
24
61
|
Wolf B
|
1779651 |
1991 |
41 |
Neonatal screening for biotinidase deficiency. A pilot study in Scotland.
61
56
|
Kennedy R...King MD
|
2515386 |
1989 |
42 |
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.
56
61
|
Dunkel G...Laberge C
|
2502673 |
1989 |
43 |
Basal ganglia calcifications in a case of biotinidase deficiency.
56
61
|
Schulz PE...Fishman MA
|
3399084 |
1988 |
44 |
Neonatal screening for biotinidase deficiency in north eastern Italy.
56
61
|
Burlina AB...Gaburro D
|
3391228 |
1988 |
45 |
Multiple carboxylase deficiency due to deficiency of biotinidase.
61
56
|
Thuy LP...Nyhan WL
|
3783319 |
1986 |
46 |
Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.
56
61
|
Heard GS...Linyear AS
|
3944695 |
1986 |
47 |
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
61
56
|
Wolf B...Weissbecker KA
|
4000223 |
1985 |
48 |
Biotinidase deficiency: presymptomatic treatment.
56
61
|
Wallace SJ
|
4015175 |
1985 |
49 |
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.
56
61
|
Suormala T...Baumgartner ER
|
3926500 |
1985 |
50 |
Biotinidase deficiency: factors responsible for the increased biotin requirement.
61
56
|
Baumgartner ER...Bonjour JP
|
3930842 |
1985 |
51 |
Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.
61
56
|
Greter J...Koivikko M
|
3930850 |
1985 |
52 |
Biotinidase deficiency and the eye and ear.
61
56
|
Taitz LS...Bennet M
|
6137736 |
1983 |
53 |
Biotinidase deficiency in juvenile multiple carboxylase deficiency.
61
56
|
Thoene J...Wolf B
|
6135890 |
1983 |
54 |
Deficient biotinidase activity in late-onset multiple carboxylase deficiency.
61
56
|
Wolf B...Allen RJ
|
6848914 |
1983 |
55 |
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.
61
24
|
Wolf B
|
27014582 |
2016 |
56 |
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
24
61
|
Wolf B
|
26358973 |
2015 |
57 |
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
24
61
|
Senanayake DN...Wolf B
|
28649532 |
2015 |
58 |
The Biotinidase Gene Variants Registry: A Paradigm Public Database.
61
24
|
Procter M...Mao R
|
23550138 |
2013 |
59 |
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
24
61
|
Cowan TM...Schrijver I
|
22698809 |
2012 |
60 |
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".
61
24
|
Wolf B
|
22241090 |
2012 |
61 |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
6
|
Centers for Disease Control and Prevention (CDC)
|
22475884 |
2012 |
62 |
The neurology of biotinidase deficiency.
61
24
|
Wolf B
|
21696988 |
2011 |
63 |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
6
|
Bell CJ...Kingsmore SF
|
21228398 |
2011 |
64 |
Technical standards and guidelines for the diagnosis of biotinidase deficiency.
24
61
|
Cowan TM...Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
|
20539236 |
2010 |
65 |
Biotinidase Deficiency: New Directions and Practical Concerns.
24
61
|
Wolf B
|
12791199 |
2003 |
66 |
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
61
24
|
Wolf B
|
11998918 |
2002 |
67 |
Structure of the human biotinidase gene.
61
24
|
Knight HC...Wolf B
|
9530634 |
1998 |
68 |
Biotinidase deficiency with neurological features resembling multiple sclerosis.
61
24
|
Tokatli A...Ozalp I
|
9323568 |
1997 |
69 |
Biotinidase and its roles in biotin metabolism.
61
24
|
Hymes J...Wolf B
|
8930409 |
1996 |
70 |
Biotinidase mutational "hotspot'.
6
|
Gordon A
|
8640218 |
1996 |
71 |
First trimester prenatal exclusion of biotinidase deficiency.
61
24
|
Chalmers RA...Stratton D
|
7707701 |
1994 |
72 |
Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
61
24
|
Ramaekers VT...Heimann G
|
8352834 |
1993 |
73 |
The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.
56
|
Tokatli A...Gunay M
|
1527996 |
1992 |
74 |
Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.
56
|
Dionisi-Vici C...Sabetta G
|
3148078 |
1988 |
75 |
Sudden death associated with biotinidase deficiency.
24
61
|
Burton BK...Weissbecker KA
|
3822661 |
1987 |
76 |
Inheritable biotin-treatable disorders and associated phenomena.
56
|
Sweetman L...Nyhan WL
|
3089241 |
1986 |
77 |
Long-term auditory and visual complications of biotinidase deficiency.
61
24
|
Taitz LS...Bartlett K
|
4054050 |
1985 |
78 |
Potential for prenatal diagnosis of biotinidase deficiency.
61
24
|
Secor McVoy JR...Wolf B
|
6483793 |
1984 |
79 |
Deficient liver biotinidase activity in multiple carboxylase deficiency.
56
|
Gaudry M...Frezal J
|
6135889 |
1983 |
80 |
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
61
24
|
Wolf B...Kien CL
|
6883721 |
1983 |
81 |
Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency.
56
|
Fischer A...Griscelli C
|
6212592 |
1982 |
82 |
Defective biotin absorption in multiple carboxylase deficiency.
56
|
Munnich A...Frezal J
|
6114319 |
1981 |
83 |
Two forms of biotin-responsive multiple carboxylase deficiency.
56
|
Sweetman L
|
6790844 |
1981 |
84 |
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
56
|
Sander JE...Wara DW
|
7436398 |
1980 |
85 |
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
56
|
Bartlett K...Leonard JV
|
6766095 |
1980 |
86 |
A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.
56
|
Lehnert W...Frasch W
|
499258 |
1979 |
87 |
Biotin-responsive alopecia and developmental regression.
56
|
Charles BM...Taitz LS
|
88555 |
1979 |
88 |
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
56
|
Sweetman L...Nyhan WL
|
917614 |
1977 |
89 |
Evidence for the enzymic defect in beta-methylcrotonylglycinuria.
56
|
Gompertz D...Bartlett K
|
4715674 |
1973 |
90 |
Biotin-responsive beta-methylcrotonylglycinuria.
56
|
Gompertz D...Hull D
|
4103667 |
1971 |
91 |
[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening].
61
54
|
Bay LB...Rodriguez R
|
20204226 |
2010 |
92 |
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
61
54
|
Tanzer F...Buyukkayhan D
|
20333870 |
2009 |
93 |
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.
54
61
|
Perez-Monjaras A...Leon-Del-Rio A
|
18845537 |
2008 |
94 |
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
61
54
|
Desai S...Hegde A
|
18545994 |
2008 |
95 |
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents.
61
54
|
Yetgin S...Niemeyer C
|
17710663 |
2007 |
96 |
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
61
54
|
Milankovics I...Schuler A
|
17185019 |
2007 |
97 |
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.
61
54
|
Yang Y...Wu XR
|
17621476 |
2007 |
98 |
Audiologic findings in children with biotinidase deficiency in Turkey.
61
54
|
Genc GA...Coskun T
|
17161472 |
2007 |
99 |
Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
61
54
|
Mikati MA...Rahi AC
|
17092467 |
2006 |
100 |
[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].
54
61
|
Li D...Zhou R
|
17274881 |
2006 |
101 |
Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns.
61
54
|
Gonzalez EC...Perez PL
|
16480705 |
2006 |
102 |
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands].
54
61
|
Bolhuis PA...Page-Christiaens GC
|
16398167 |
2005 |
103 |
Biotinidase: its role in biotinidase deficiency and biotin metabolism.
54
61
|
Wolf B
|
15992688 |
2005 |
104 |
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
61
54
|
Hoffman TL...Ficicioglu C
|
15711955 |
2005 |
105 |
Successful pregnancy in a treated patient with biotinidase deficiency.
54
61
|
Hendriksz CJ...Chakrapani A
|
16151912 |
2005 |
106 |
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
54
61
|
Santer R...Lukacs Z
|
15877202 |
2005 |
107 |
[Optic neuropathy in biotinidase deficiency].
54
61
|
Puertas Bordallo D...Valls Ferran MI
|
15306966 |
2004 |
108 |
A boy with spastic paraparesis and dyspnea.
61
54
|
Kalkanoglu HS...Topaloglu H
|
15224716 |
2004 |
109 |
Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
54
61
|
Hou JW
|
15095958 |
2004 |
110 |
A case of partial biotinidase deficiency associated with autism.
54
61
|
Zaffanello M...Tato L
|
13680408 |
2003 |
111 |
Biotinidase deficiency: clinical and MRI findings consistent with myelopathy.
61
54
|
Wiznitzer M...Bangert BA
|
13679123 |
2003 |
112 |
[Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana].
54
61
|
Marrero-Gonzalez N...Lantigua-Cruz A
|
12766862 |
2003 |
113 |
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].
61
54
|
Yang YL...Wu X
|
14754524 |
2003 |
114 |
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.
54
61
|
Dobrowolski SF...Naylor EW
|
12618081 |
2003 |
115 |
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
61
54
|
Laszlo A...Wolf B
|
14707518 |
2003 |
116 |
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
61
54
|
Heller AJ...Wolf B
|
12372635 |
2002 |
117 |
Seventeen novel mutations that cause profound biotinidase deficiency.
54
61
|
Wolf B...Sykut-Cegielska J
|
12359137 |
2002 |
118 |
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
61
54
|
Funghini S...Zammarchi E
|
12227467 |
2002 |
119 |
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
54
61
|
Tsao CY...Kien CL
|
11952077 |
2002 |
120 |
[Biotinidase deficiency--a case report].
61
54
|
Mrugacz M...Bakunowicz-Lazarczyk A
|
12608316 |
2002 |
121 |
[Biotinidase deficiency and eye].
61
54
|
Mrugacz M...Sredzinska-Kita D
|
12608322 |
2002 |
122 |
Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster.
61
54
|
Swango KL...Wolf B
|
11749055 |
2001 |
123 |
A new quantitative analytical method of serum biotinidase activity using biocytin as a substrate and its clinical significance in Japan.
54
61
|
Kumasaka K...Hashizume N
|
11282096 |
2001 |
124 |
Reversible deafness caused by biotinidase deficiency.
61
54
|
Straussberg R...Amir J
|
11033293 |
2000 |
125 |
The magnitude and challenge of false-positive newborn screening test results.
54
61
|
Kwon C...Farrell PM
|
10891024 |
2000 |
126 |
Biotinidase deficiency--a treatable entity.
61
54
|
Gulati S...Verma IC
|
10932969 |
2000 |
127 |
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
61
54
|
Hwu WL...Tsai WY
|
10770035 |
2000 |
128 |
Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
61
54
|
Joshi S...Ozand PT
|
11924114 |
1999 |
129 |
Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency.
61
54
|
Strom CM...Levine EM
|
9764646 |
1998 |
130 |
[Prevalence study of biotinidase deficiency in newborns].
61
54
|
Pinto AL...Antoniuk SA
|
9713119 |
1998 |
131 |
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
54
61
|
Pomponio RJ...Wolf B
|
9516011 |
1998 |
132 |
[Multiple carboxylase deficiency].
61
54
|
Andersen JB...Christensen E
|
9492625 |
1998 |
133 |
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
54
61
|
Norrgard KJ...Wolf B
|
10206677 |
1998 |
134 |
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
61
54
|
Rahman S...Pike MG
|
9433860 |
1997 |
135 |
Biotinidase deficiency: two cases of very early presentation.
61
54
|
Haagerup A...Christensen MF
|
9433861 |
1997 |
136 |
Cerebral metabolic changes in biotinidase deficiency.
61
54
|
Schurmann M...Gartner J
|
9427142 |
1997 |
137 |
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
54
61
|
Norrgard KJ...Wolf B
|
9232193 |
1997 |
138 |
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
61
54
|
Baumgartner ER...Suormala T
|
9350481 |
1997 |
139 |
Biotinidase deficiency: result of treatment with biotin from age 12 years.
61
54
|
Casado de Frias E...Perez Cerda C
|
10728214 |
1997 |
140 |
Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency.
61
54
|
Hymes J...Wolf B
|
8593541 |
1995 |
141 |
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
61
54
|
Bay CA...Kaplan P
|
8750607 |
1995 |
142 |
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
61
54
|
Coskun T...Ozalp I
|
7825232 |
1994 |
143 |
Biotinidase deficiency: early neurological presentation.
61
54
|
Collins JE...Leonard JV
|
8138076 |
1994 |
144 |
Screening for biotinidase deficiency in some skin diseases.
61
54
|
Marklova E...Nozickova M
|
7761790 |
1994 |
145 |
[Biotinidase deficiency. Progressive encephalopathy curable with biotin].
54
61
|
Heron B...Ponsot G
|
8053766 |
1993 |
146 |
Biotinidase activity in patients with liver disease.
61
54
|
Nagamine T...Fukui T
|
8266019 |
1993 |
147 |
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
54
61
|
Weissbecker KA...Nance WE
|
8213911 |
1993 |
148 |
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
54
61
|
Bousounis DP...Wolf B
|
8232780 |
1993 |
149 |
Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.
61
54
|
Ginat-Israeli T...Amir N
|
8327062 |
1993 |
150 |
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.
61
54
|
Hart PS...Wolf B
|
1524870 |
1992 |
151 |
Biotinidase deficiency: a rare cause of laryngeal stridor.
61
54
|
Ataman M...Ozalp I
|
1592565 |
1992 |
152 |
[Juvenile optic neuropathy caused by Km variants of biotinidase].
61
54
|
Brab M...Reim M
|
1315891 |
1992 |
153 |
Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.
61
54
|
Hart PS...Wolf B
|
1561012 |
1992 |
154 |
Lipoamidase and biotinidase deficiency: evidence that lipoamidase and biotinidase are the same enzyme in human serum.
61
54
|
Nilsson L...Ronge E
|
1599976 |
1992 |
155 |
Neuropathology of biotinidase deficiency.
61
54
|
Honavar M...Chalmers RA
|
1441928 |
1992 |
156 |
Skin manifestations of biotin deficiency.
61
54
|
Mock DM
|
1764357 |
1991 |
157 |
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].
54
61
|
Schweitzer S...Brodehl J
|
1896047 |
1991 |
158 |
Isoforms of human serum biotinidase.
24
|
Hart PS...Wolf B
|
2049867 |
1991 |
159 |
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.
61
54
|
Sutherland SJ...O'Brien JF
|
1706649 |
1991 |
160 |
Neonatal screening for biotinidase deficiency in east-Hungary.
61
54
|
Havass Z
|
1779652 |
1991 |
161 |
Partial biotinidase deficiency associated with Coffin-Siris syndrome.
61
54
|
Burlina AB...Zacchello F
|
2373113 |
1990 |
162 |
Screening for biotinidase deficiency in newborns: worldwide experience.
54
61
|
Wolf B...Heard GS
|
2314964 |
1990 |
163 |
Partial biotinidase deficiency: clinical and biochemical features.
61
54
|
McVoy JR...Wolf B
|
2295967 |
1990 |
164 |
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.
24
|
Suormala T...Baumgartner ER
|
3918814 |
1985 |
165 |
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.
61
|
Bilge N...Yevgi R
|
32559702 |
2020 |
166 |
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
61
|
Battini R...Servidei S
|
32209270 |
2020 |
167 |
The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
61
|
Torkamandi S...Gholami M
|
32281057 |
2020 |
168 |
Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.
61
|
Ghazal S...Malik L
|
32523854 |
2020 |
169 |
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
61
|
Hernandez-Nieto C...Sandler B
|
32003480 |
2020 |
170 |
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
61
|
Wolf B
|
32440355 |
2020 |
171 |
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
61
|
Kellom ER...Stepien KE
|
32235217 |
2020 |
172 |
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
61
|
Azzopardi PJ...Hayeems RZ
|
31597957 |
2020 |
173 |
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
61
|
Mardhiah M...Habib A
|
32300527 |
2020 |
174 |
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency.
61
|
Patra S...Bhari N
|
31323123 |
2020 |
175 |
[A case of brain liquefaction caused by biotinidase deficiency].
61
|
Niu HH...Shen YP
|
32102155 |
2020 |
176 |
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
61
|
Canda E...Coker M
|
32440248 |
2020 |
177 |
Biotinidase deficiency in a newborn.
61
|
El Moussaoui S...Maoulainine FMR
|
31594257 |
2020 |
178 |
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
61
|
Al-Eitan LN...Haddad H
|
31973013 |
2020 |
179 |
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
61
|
Carvalho NO...Viana MB
|
31801038 |
2019 |
180 |
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
61
|
Han XD...Deng J
|
31665838 |
2019 |
181 |
Biotin interference in immunoassays based on biotin-strept(avidin) chemistry: An emerging threat.
61
|
Luong JHT...Glennon JD
|
30872068 |
2019 |
182 |
Effect of BTD gene variants on in vitro biotinidase activity.
61
|
Borsatto T...Schwartz IVD
|
31337602 |
2019 |
183 |
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.
61
|
Van Iseghem V...Laureys G
|
31035122 |
2019 |
184 |
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
61
|
Schwantje M...Visser G
|
31392107 |
2019 |
185 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
61
|
David J...Votava F
|
31241292 |
2019 |
186 |
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
61
|
Carvalho NO...Viana MB
|
30912303 |
2019 |
187 |
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
61
|
Hayek W...Spiegel R
|
30905112 |
2019 |
188 |
Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.
61
|
Wolf B
|
30551056 |
2019 |
189 |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.
61
|
Hsu RH...Lee NC
|
30616616 |
2019 |
190 |
Congenital biotinidase deficiency - MRI findings in two cases.
61
|
Ranjan RS...Gupta V
|
31000952 |
2019 |
191 |
Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays.
61
|
Paketci A...Bober E
|
31655813 |
2019 |
192 |
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy.
61
|
Guliyeva U...Guliyeva S
|
30001564 |
2018 |
193 |
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
61
|
Schiergens KA...Maier EM
|
29954013 |
2018 |
194 |
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
61
|
Deschamps R...Gout O
|
29025919 |
2018 |
195 |
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
61
|
Canda E...Coker M
|
29995633 |
2018 |
196 |
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
61
|
Murry JB...BabySeq Project Team
|
29728376 |
2018 |
197 |
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
61
|
Hong X...Gelb MH
|
29680633 |
2018 |
198 |
Are we missing patients with biotinidase deficiency in France?
61
|
Deschamps R...Gout O
|
29778138 |
2018 |
199 |
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
61
|
Seker Yilmaz B...Ceylaner S
|
29353266 |
2018 |
200 |
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
61
|
Liu Z...Liu L
|
29359854 |
2018 |
201 |
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
61
|
Strovel ET...Wolf B
|
29240078 |
2018 |
202 |
Biotinidase deficiency masquerading as multiple sclerosis?
61
|
Wolf B
|
28337933 |
2018 |
203 |
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis?
61
|
Tourbah A...Sedel F
|
28337934 |
2018 |
204 |
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
61
|
Althonaian N...Alfadhel M
|
29445937 |
2018 |
205 |
Could nodding syndrome in Northern Uganda be a form of autism spectrum disorder? an observational study design.
61
|
Arony DA...Kitara DL
|
30364427 |
2018 |
206 |
Characterizing the Biotinidase Deficiency in a Child When Considering a Possible Disease Association.
61
|
Wolf B
|
28991128 |
2018 |
207 |
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies.
61
|
Dogruel D...Altintas DU
|
30968642 |
2018 |
208 |
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
61
|
Mastrangelo M
|
29899766 |
2018 |
209 |
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
61
|
Porta F...Spada M
|
28971021 |
2017 |
210 |
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder.
61
|
Wolf B
|
29431165 |
2017 |
211 |
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
61
|
Strovel ET...Wolf B
|
28682309 |
2017 |
212 |
Developmental window of sensorineural deafness in biotinidase-deficient mice.
61
|
Maheras KJ...Gow A
|
28516283 |
2017 |
213 |
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].
61
|
Senanayake DN...Wolf B
|
28653700 |
2017 |
214 |
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
61
|
Yilmaz S...Serdaroglu G
|
28281033 |
2017 |
215 |
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].
61
|
Hong F...Zhao Z
|
29039164 |
2017 |
216 |
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
61
|
Wolf B
|
27657684 |
2017 |
217 |
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
61
|
Landau YE...Levy HL
|
28054209 |
2017 |
218 |
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
61
|
Girard B...Bilbault C
|
27207447 |
2017 |
219 |
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
61
|
Ferreira P...Wolf B
|
28220409 |
2017 |
220 |
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
61
|
Borsatto T...D Schwartz IV
|
28498829 |
2017 |
221 |
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
61
|
Borsatto T...Schwartz IVD
|
28640880 |
2017 |
222 |
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.
61
|
Brigolin C...Wolf B
|
27752475 |
2016 |
223 |
Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
61
|
Infinger LK...Bredlau AL
|
27271814 |
2016 |
224 |
Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population.
61
|
Asgari A...Khatami S
|
27845546 |
2016 |
225 |
Diagnostic Dilemma Of Biotinidase Deficiency: Case Of A Child From Pakistan.
61
|
Shoaib M...Aijaz Z
|
28586590 |
2016 |
226 |
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
61
|
Wiltink RC...Williams M
|
27329734 |
2016 |
227 |
A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
61
|
Demirturk Z...Telci L
|
27761288 |
2016 |
228 |
Biotinidase deficiency and our champagne legacy.
61
|
Wolf B
|
26456103 |
2016 |
229 |
Comment on: Childhood optic atrophy in biotinidase deficiency.
61
|
Venugopal N...Kummararaj S
|
27688290 |
2016 |
230 |
Clinical utility gene card for: Biotinidase deficiency-update 2015.
61
|
Kury S...Wolf B
|
26577040 |
2016 |
231 |
Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia.
61
|
Erdol S...Okan MS
|
26830281 |
2016 |
232 |
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
61
|
Talebi H...Yaghini O
|
27144235 |
2016 |
233 |
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.
61
|
Iseri-Erten SO...Ulusu NN
|
28356871 |
2016 |
234 |
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
61
|
Thodi G...Loukas YL
|
26656798 |
2016 |
235 |
Forty-eight novel mutations causing biotinidase deficiency.
61
|
Procter M...Mao R
|
26810761 |
2016 |
236 |
Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
61
|
Kiykim E...Aydin A
|
26055667 |
2016 |
237 |
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
61
|
Al-Jasmi FA...Souid AK
|
26589311 |
2016 |
238 |
[The criteria of early detection of biotinidase deficiency-based epilepsy].
61
|
Malov AG...Serebrennikova EB
|
27240052 |
2016 |
239 |
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.
61
|
Szymanska E...Tylki-Szymanska A
|
28649539 |
2015 |
240 |
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.
61
|
Singh A...Kapoor S
|
26816961 |
2015 |
241 |
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
61
|
Mohamed S...Abu-Amero KK
|
26117549 |
2015 |
242 |
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
61
|
Gannavarapu S...Rupar CA
|
26361991 |
2015 |
243 |
Novel imaging findings in two cases of biotinidase deficiency-a treatable metabolic disorder.
61
|
Bhat MD...Verma A
|
26037171 |
2015 |
244 |
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
61
|
Bottin L...Stankoff B
|
26203071 |
2015 |
245 |
Nuclear Gene-Encoded Leigh Syndrome Overview
61
|
Rahman S...Thorburn D
|
26425749 |
2015 |
246 |
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples.
61
|
Szabo E...Takats Z
|
26400555 |
2015 |
247 |
Newborn Screening: What Does the Emergency Physician Need to Know?
61
|
Lavin LR...Abramo T
|
26335232 |
2015 |
248 |
Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.
61
|
Vallejo-Torres L...Serrano-Aguilar P
|
26169436 |
2015 |
249 |
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
61
|
Karaca M...Sivri HS
|
25754625 |
2015 |
250 |
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.
61
|
Tonin R...Morrone A
|
25795614 |
2015 |
251 |
Biotinidase deficiency mimicking primary immune deficiencies.
61
|
Kiykim E...Zeybek CA
|
25956498 |
2015 |
252 |
Feasibility study of an outreach program of newborn screening in Uttar Pradesh.
61
|
Agarwal M...Phadke SR
|
25366286 |
2015 |
253 |
Why screen newborns for profound and partial biotinidase deficiency?
61
|
Wolf B
|
25638506 |
2015 |
254 |
Mutations in BTD gene causing biotinidase deficiency: a regional report.
61
|
Kasapkara CS...Tanyalcin T
|
25423671 |
2015 |
255 |
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.
61
|
Cabasson S...Dulubac E
|
25556014 |
2015 |
256 |
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
61
|
Jay AM...Wolf B
|
25144890 |
2015 |
257 |
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
61
|
Gungor O...Aydin K
|
26043506 |
2015 |
258 |
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
61
|
De Castro M...Kirmse B
|
25690727 |
2015 |
259 |
Biotinidase Deficiency in Newborns as Respiratory Distress and Tachypnea: A Case Report.
61
|
Koohmanaee S...Dalili S
|
26221165 |
2015 |
260 |
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
61
|
Lara MT...Januario JN
|
25967232 |
2015 |
261 |
[Biotinidase deficiency and vascular ring malformation: case report].
61
|
Gonzalez-Salazar F...Vargas-Camacho G
|
25192539 |
2014 |
262 |
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
61
|
Borsatto T...Schwartz IV
|
25174816 |
2014 |
263 |
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
61
|
Gopalakrishnan V...Bhatia V
|
25228601 |
2014 |
264 |
Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.
61
|
Mukhopadhyay D...Mukhopadhyay M
|
25284861 |
2014 |
265 |
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
61
|
Li H...Wolf B
|
24797656 |
2014 |
266 |
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
61
|
Pindolia K...Wolf B
|
24630269 |
2014 |
267 |
Austrian Newborn Screening Program: a perspective of five decades.
61
|
Pollak A...Kasper DC
|
24225125 |
2014 |
268 |
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.
61
|
Al Hosani H...Hertecant J
|
24932929 |
2014 |
269 |
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
61
|
Al-Shamsi A...Al-Jasmi F
|
24516753 |
2014 |
270 |
Optic neuropathy due to biotinidase deficiency in a 19-year-old man.
61
|
Haines SR...Longmuir RA
|
24525934 |
2014 |
271 |
Biotinidase deficiency: novel mutations in Algerian patients.
61
|
Tiar A...Abdelhak S
|
23481307 |
2014 |
272 |
Management of anesthesia in biotinidase deficiency.
61
|
Goktas U...Palabiyik O
|
24574621 |
2014 |
273 |
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
61
|
Krishnakumar D...Parker AP
|
23220796 |
2014 |
274 |
Role of optic microscopy for early diagnosis of Menkes disease.
61
|
Craiu D...Craiu M
|
25329126 |
2014 |
275 |
The development and organization of newborn screening programs in Turkey.
61
|
Tezel B...Dilmen U
|
24375520 |
2014 |
276 |
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates.
61
|
Aygen S...Tuncer O
|
25012580 |
2014 |
277 |
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.
61
|
Graham C...Pamula VK
|
24036022 |
2013 |
278 |
Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.
61
|
Hernandez-Vazquez A...Velazquez-Arellano A
|
24075304 |
2013 |
279 |
[Vitamin-responsive epilepsies: an update].
61
|
Tabarki B...Thabet F
|
24080039 |
2013 |
280 |
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
61
|
Afroze B...Wasay M
|
24169397 |
2013 |
281 |
Etiology and outcome of inborn errors of metabolism.
61
|
Choudhry S...Khan EA
|
24601187 |
2013 |
282 |
Biotinidase deficiency in childhood.
61
|
Venkataraman V...Jamal R
|
24005734 |
2013 |
283 |
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
61
|
Thodi G...Biti S
|
23644139 |
2013 |
284 |
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency.
61
|
Lunnemann L...Garcia Bartels N
|
23552716 |
2013 |
285 |
Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).
61
|
Karimzadeh P...Tonekaboni SH
|
24665318 |
2013 |
286 |
Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
61
|
Chamney S...McLoone E
|
28167995 |
2013 |
287 |
Biotinidase deficiency: an atypical presentation.
61
|
Jagadeesh S...Suzuki Y
|
24066991 |
2013 |
288 |
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.
61
|
Baumgartner MR
|
23622402 |
2013 |
289 |
Ataxia.
61
|
Winchester S...Mikati MA
|
23622331 |
2013 |
290 |
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience].
61
|
Juan-Fita MJ...Fernandez-Sanchez A
|
22137990 |
2012 |
291 |
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.
61
|
Pindolia K...Wolf B
|
22579707 |
2012 |
292 |
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots.
61
|
Lindau-Shepard B...Pass KA
|
27625817 |
2012 |
293 |
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.
61
|
Kardas F...Kendirci M
|
22605457 |
2012 |
294 |
Biotinidase deficiency in Pakistani children; what needs to be known and done.
61
|
Afroze B...Wasay M
|
22755269 |
2012 |
295 |
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
61
|
Hayati AA...Shatriah I
|
22457589 |
2012 |
296 |
Biotinidase deficiency.
61
|
Tomar R...Vasudevan R
|
24623922 |
2012 |
297 |
Epilepsy in biotinidase deficiency after biotin treatment.
61
|
Mico SI...Fernandez CC
|
23430899 |
2012 |
298 |
VACTERL association: a new case with biotinidase deficiency and annular pancreas.
61
|
Sezer RG...Aydinoz S
|
22010814 |
2012 |
299 |
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
61
|
Thodi G...Doulgerakis E
|
22011816 |
2011 |
300 |
A girl with spastic tetraparesis associated with biotinidase deficiency.
61
|
Komur M...Atici A
|
21571559 |
2011 |
301 |
[Biotinidase deficiency: the two faces of metabolic screening].
61
|
Pintos-Morell G
|
21764085 |
2011 |
302 |
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
61
|
Couce ML...Ugarte M
|
21752405 |
2011 |
303 |
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
61
|
Raha S...Udani V
|
21907891 |
2011 |
304 |
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
61
|
Rajendiran A...Sampath S
|
22679321 |
2011 |
305 |
Ohtahara syndrome with biotinidase deficiency.
61
|
Singhi P...Ray M
|
21115748 |
2011 |
306 |
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.
61
|
Pindolia K...Wolf B
|
21051254 |
2011 |
307 |
Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
61
|
Bunch M...Singh A
|
21123088 |
2011 |
308 |
Profound biotinidase deficiency: a rare disease among native Swedes.
61
|
Ohlsson A...von Dobeln U
|
20224900 |
2010 |
309 |
Newborn screening conditions: What we know, what we do not know, and how we will know it.
61
|
Levy HL
|
21150366 |
2010 |
310 |
Expanded newborn screening in Greece: 30 months of experience.
61
|
Loukas YL...Papadopoulos K
|
20721692 |
2010 |
311 |
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
61
|
Milankovics I...Fekete G
|
20549359 |
2010 |
312 |
The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.
61
|
Kasper DC...Herkner KR
|
20938748 |
2010 |
313 |
Two unusual clinical and radiological presentations of biotinidase deficiency.
61
|
Mc Sweeney N...Hemingway C
|
20153672 |
2010 |
314 |
Analysis of mutations causing biotinidase deficiency.
61
|
Pindolia K...Wolf B
|
20556795 |
2010 |
315 |
Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
61
|
Tammachote R...Shotelersuk V
|
20095979 |
2010 |
316 |
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
61
|
Iqbal F...Bodamer OA
|
20083419 |
2010 |
317 |
[Epilepsy onset between one month and three months of life: our 11 years experience].
61
|
Perez Delgado R...Pena Segura JL
|
20487708 |
2010 |
318 |
[Epileptic encephalopathy due to partial biotinidase deficiency].
61
|
Lafuente-Hidalgo M...Baldellou Vazquez A
|
20171151 |
2010 |
319 |
Biotin responsive seizures and encephalopathy due to biotinidase deficiency.
61
|
Joshi SN...Bayoumi R
|
20508364 |
2010 |
320 |
Biotinidase deficiency: A treatable cause of infantile seizures.
61
|
Bhardwaj P...Chandel A
|
21042519 |
2010 |
321 |
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
61
|
Ye J...Gu XF
|
19728141 |
2009 |
322 |
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
61
|
Sarafoglou K...Berry SA
|
19757147 |
2009 |
323 |
Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency.
61
|
Soares-Fernandes JP...Barkovich AJ
|
19509076 |
2009 |
324 |
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid.
61
|
Arslan M...Ozcan O
|
18814980 |
2009 |
325 |
Current trends in the treatment of infantile spasms.
61
|
Tsao CY
|
19557123 |
2009 |
326 |
Biotinidase deficiency with hypertonia as unusual feature.
61
|
Rathi N...Rathi M
|
19179722 |
2009 |
327 |
[Updating neonatal neurometabolic screening].
61
|
Alfonso I...Charria G
|
19240000 |
2009 |
328 |
Biotin and biotinidase deficiency.
61
|
Zempleni J...Wijeratne SS
|
19727438 |
2008 |
329 |
Biotinidase deficiency.
61
|
Dahiphale R...Agrawal M
|
18820388 |
2008 |
330 |
[Prevalence of diseases diagnosed by the Program of Neonatal Screening in Maringá, Paraná, Brazil: 2001-2006].
61
|
Luz Gdos S...Higarashi IH
|
19068582 |
2008 |
331 |
Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column.
61
|
Hayakawa K...Nagamine T
|
18514598 |
2008 |
332 |
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].
61
|
Xie LJ...Gu XF
|
18289467 |
2008 |
333 |
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation].
61
|
Zhang JM...Wang MX
|
18339284 |
2007 |
334 |
Three dimensional structure of human biotinidase: computer modeling and functional correlations.
61
|
Pindolia K...Wolf B
|
17629531 |
2007 |
335 |
Long-term follow-up of hearing loss in biotinidase deficiency.
61
|
Welling DB
|
17761663 |
2007 |
336 |
Neonatal screening in Europe; the situation in 2004.
61
|
Loeber JG
|
17616847 |
2007 |
337 |
Newborn screening fact sheets.
61
|
Kaye CI...Michele A LP
|
16950973 |
2006 |
338 |
Introduction to the newborn screening fact sheets.
61
|
Kaye CI...Schaefer GB
|
16960984 |
2006 |
339 |
Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid.
61
|
Korkmazer N...Gokcay E
|
16682156 |
2006 |
340 |
Comprehensive cost-utility analysis of newborn screening strategies.
61
|
Carroll AE...Downs SM
|
16735255 |
2006 |
341 |
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
61
|
Sass JO...Omran H
|
16465618 |
2006 |
342 |
Community genetics and dignity in diversity in the Quebec Network of Genetic Medicine.
61
|
Scriver CR
|
16741343 |
2006 |
343 |
An overview of hereditary hearing loss.
61
|
Bayazit YA...Yilmaz M
|
16428895 |
2006 |
344 |
Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice.
61
|
Brumwell CL...Wolf B
|
16107307 |
2005 |
345 |
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization.
61
|
Wolf B...Jensen K
|
16150625 |
2005 |
346 |
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
61
|
Wolf B...Slonim AE
|
15776412 |
2005 |
347 |
Emergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic male.
61
|
Reed JJ...Rupp T
|
14716165 |
2004 |
348 |
[West's syndrome. Analysis, aetiological factors and therapeutic options].
61
|
Campistol J...Garcia-Cazorla A
|
14533111 |
2003 |
349 |
Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.
61
|
Ananth N...Praveen Kumar GS
|
23105388 |
2003 |
350 |
The effect of neonatal jaundice on biotinidase activity.
61
|
Schulpis KH...Costalos C
|
12706308 |
2003 |
351 |
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
61
|
Wolf B...Ward JC
|
14739685 |
2003 |
352 |
Newborn screening compared to clinical identification of biochemical genetic disorders.
61
|
Waisbren SE...New England Consortium of Metabolic Programs
|
12638945 |
2002 |
353 |
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.
61
|
Suormala T...Baumgartner ER
|
12214565 |
2002 |
354 |
Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.
61
|
Baur B...Baumgartner ER
|
11792359 |
2002 |
355 |
Neonatal biochemical screening for disease.
61
|
Clague A...Thomas A
|
11728413 |
2002 |
356 |
Low serum biotinidase activity in children with valproic acid monotherapy.
61
|
Schulpis KH...Tsakiris S
|
11737173 |
2001 |
357 |
[Biotinidase deficiency].
61
|
Suzuki Y
|
11462434 |
2001 |
358 |
Cutaneous and neurologic manifestations of biotinidase deficiency.
61
|
Navarro PC...Ortiz FJ
|
10849128 |
2000 |
359 |
[Model project for updating neonatal screening in Bavaria: concept and initial results].
61
|
Liebl B...Roscher AA
|
10844815 |
2000 |
360 |
Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood-brain barrier.
61
|
Baur B...Baumgartner ER
|
10708686 |
2000 |
361 |
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
61
|
Blanton SH...Wolf B
|
10799968 |
2000 |
362 |
Novel mutations in children with profound biotinidase deficiency from Saudi Arabia.
61
|
Pomponio RJ...Wolf B
|
10801060 |
2000 |
363 |
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase.
61
|
Swango KL...Wolf B
|
10720437 |
2000 |
364 |
Sickle-cell disease not identified by newborn screening because of prior transfusion.
61
|
Reed W...Vichinsky EP
|
10657834 |
2000 |
365 |
Examination of the signal peptide region of human biotinidase using a baculovirus expression system.
61
|
Norrgard KJ...Wolf B
|
10655158 |
2000 |
366 |
[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment].
61
|
Couce Pico ML...Fraga JM
|
10394193 |
1999 |
367 |
The effect of isotretinoin on biotinidase activity.
61
|
Schulpis KH...Karikas GA
|
10325581 |
1999 |
368 |
Incidence of biotinidase deficiency in Turkish newborns.
61
|
Baykal T...Demirkol M
|
9825985 |
1998 |
369 |
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
61
|
Thomason MJ...Seymour CA
|
9793900 |
1998 |
370 |
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.
61
|
Suormala T...Baumgartner ER
|
9686819 |
1998 |
371 |
[Programs of systematic screening in neonatology. Pharmaco-economic aspects].
61
|
Schoos R...Koulischer L
|
9689890 |
1998 |
372 |
[Biotinidase deficiency (late-onset multiple carboxylase deficiency)].
61
|
Sakamoto O...Narisawa K
|
9645048 |
1998 |
373 |
[Biotinidase deficiency].
61
|
Casado de Frias E
|
9616944 |
1997 |
374 |
A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide.
61
|
Garganta CL...Wolf B
|
8811903 |
1996 |
375 |
[Biotinidase deficiency. Its form of presentation and response to treatment].
61
|
Campistol J...Riudor E
|
8796946 |
1996 |
376 |
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.
61
|
Coker M...Duran M
|
8982947 |
1996 |
377 |
Late-onset holocarboxylase synthetase deficiency.
61
|
Gibson KM...Mize CE
|
8982946 |
1996 |
378 |
Current approaches to genetic metabolic screening in newborns.
61
|
Levy HL...Cornier AS
|
7849819 |
1994 |
379 |
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
61
|
Worthen HG...Rashed M
|
7726385 |
1994 |
380 |
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency.
61
|
Bakker HD...van Gennip AH
|
7843204 |
1994 |
381 |
Biocytin-specific 110-kDa biotinidase from human serum.
61
|
Oizumi J...Hayakawa K
|
8513569 |
1993 |
382 |
Cerebrospinal fluid organic acids in biotinidase deficiency.
61
|
Duran M...Poll-The BT
|
7609439 |
1993 |
383 |
Neonatal screening for biotinidase deficiency.
61
|
Forman DT...Highsmith WE
|
1503382 |
1992 |
384 |
[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia].
61
|
Osorio RV...Soares JP
|
1595380 |
1992 |
385 |
Skin signs of nutritional disorders.
61
|
Prendiville JS...Manfredi LN
|
1550720 |
1992 |
386 |
[25 years Austrian screening program for inborn errors of metabolism at the Vienna University].
61
|
Widhalm K
|
1413809 |
1992 |
387 |
Chromosomal and biochemical screening on mentally retarded school children in Taiwan.
61
|
Wuu KD...Hsiao KJ
|
1753440 |
1991 |
388 |
Rat as a potential model for hearing loss in biotinidase deficiency.
61
|
Rybak LP...Bhardwaj B
|
2018287 |
1991 |
389 |
Effects of age and biotin status on postnatal development of plasma biotinidase activity in rats.
61
|
Heard GS...Wolf B
|
2015113 |
1991 |
390 |
Biotinidase deficiency.
61
|
Wolf B...Heard GS
|
1927696 |
1991 |
391 |
Lipoamidase activity in human serum is due to biotinidase.
61
|
Garganta CL...Wolf B
|
2225462 |
1990 |
392 |
Biotinidase deficiency in black children.
61
|
Lara EB...Snyderman SE
|
2329428 |
1990 |
393 |
Na(+)-dependent biotin transport into brush-border membrane vesicles from rat kidney.
61
|
Baur B...Baumgartner ER
|
2330980 |
1990 |
394 |
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia].
61
|
Anger H...Cobet G
|
2356250 |
1990 |
395 |
Fatty acid transport in multiple carboxylase deficiency fibroblasts.
54
|
Packman S...Whitney S
|
2123277 |
1990 |
396 |
[Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].
61
|
Nothjunge J...Baumgartner ER
|
2608075 |
1989 |
397 |
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
61
|
Baumgartner ER...Vest M
|
2587127 |
1989 |
398 |
Biotinidase deficiency associated with severe combined immunodeficiency.
61
|
Hurvitz H...Amir N
|
2568564 |
1989 |
399 |
The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals.
61
|
Pettit DA...Wolf B
|
2774184 |
1989 |
400 |
Requirement of high biotin doses in a case of biotinidase deficiency.
61
|
Riudor E...Ballabriga A
|
2515382 |
1989 |
401 |
Nutritional therapy for selected inborn errors of metabolism.
61
|
Levy HL
|
2681328 |
1989 |
402 |
[Changes in the hair in a case of biotinidase deficiency].
61
|
Calvieri S...Innocenzi D
|
2619167 |
1989 |
403 |
[The hair in a case of biotinidase deficiency].
61
|
Calvieri S...Farnetani MA
|
3254327 |
1988 |
404 |
Simon has biotinidase deficiency.
61
|
Monsma M...Eleniak D
|
3195302 |
1988 |
405 |
"Cerebral" lactic acidosis and biotinidase deficiency.
61
|
Jaeken J...Casaer P
|
3234447 |
1988 |
406 |
Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).
61
|
Suormala TM...Wick H
|
3148376 |
1988 |
407 |
Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results.
61
|
Suormala T...Baumgartner ER
|
3409923 |
1988 |
408 |
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
61
|
Holme E...Kristiansson B
|
3148068 |
1988 |
409 |
Inborn errors of biotin metabolism.
61
|
Nyhan WL
|
3318710 |
1987 |
410 |
A qualitative assessment of biotinidase deficiency.
61
|
Bankson DD...Forman DT
|
3500673 |
1987 |
411 |
[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin].
61
|
Marandian MH...Fallah A
|
3426084 |
1987 |
412 |
A simple method for quantification of biotinidase activity in dried blood spot and its application to screening of biotinidase deficiency.
61
|
Yamaguchi A...Takasugi N
|
3660404 |
1987 |
413 |
Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
61
|
Campana G...Pavari E
|
3658339 |
1987 |
414 |
Determination of biocytin.
61
|
Ebrahim H...Dakshinamurti K
|
3111297 |
1987 |
415 |
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals.
61
|
Wolf B...Shapira E
|
3107856 |
1987 |
416 |
[Results of a pilot study of neonatal screening for congenital biotinidase deficiency].
61
|
Sander J...Niehaus C
|
3796633 |
1986 |
417 |
A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency.
61
|
Chan PW...Bartlett K
|
3095002 |
1986 |
418 |
Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.
61
|
Diamantopoulos N...Roe C
|
3736876 |
1986 |
419 |
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
61
|
Mitchell G...Rocchiccioli F
|
3762868 |
1986 |
420 |
Screening for biotinidase deficiency.
61
|
Lyon IC...Webster DR
|
3702961 |
1986 |
421 |
Biotinidase deficiency: metabolites in CSF.
61
|
Fois A...Bachmann C
|
3099073 |
1986 |
422 |
Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
61
|
Bressman S...Maltese W
|
3946108 |
1986 |
423 |
Neurologic symptoms of biotinidase deficiency: possible explanation.
61
|
Suchy SF...Wolf B
|
4033935 |
1985 |
424 |
Biotinidase deficiency.
61
|
Wolf B...Grier RE
|
3925856 |
1985 |
425 |
Biotinidase deficiency associated with renal loss of biocytin and biotin.
61
|
Baumgartner ER...Bonjour JP
|
3925858 |
1985 |
426 |
Enzyme studies in biotin-responsive disorders.
61
|
Bartlett K...Wastell H
|
2864473 |
1985 |
427 |
Phenotypic variability in biotinidase deficiency.
61
|
|
6726540 |
1984 |
428 |
A screening method for biotinidase deficiency in newborns.
61
|
Heard GS...Wolf B
|
6690118 |
1984 |
429 |
The management and long term outcome of organic acidaemias.
61
|
Leonard JV...Bartlett K
|
6434837 |
1984 |
430 |
Biotinidase deficiency: clinical course and biochemical findings.
61
|
Schubiger G...Bachmann C
|
6438396 |
1984 |
431 |
Detection of biocytin in urine of children with congenital biotinidase deficiency.
61
|
Bonjour JP...Baumgartner ER
|
6438010 |
1984 |
432 |
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
61
|
Di Rocco M...Baumgartner R
|
6434860 |
1984 |
433 |
Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.
61
|
Wolf B...Raetz HM
|
6434861 |
1984 |
434 |
A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals.
61
|
Wolf B...Secor McVoy J
|
6661819 |
1983 |
435 |
Phenotypic variation in biotinidase deficiency.
61
|
Wolf B...Hurst DL
|
6875714 |
1983 |