1 |
Identification of PEX7 as the second gene involved in Refsum disease.
54
6
61
|
van den Brink DM...Wanders RJ
|
12522768 |
2003 |
2 |
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
6
61
54
|
Braverman N...Valle D
|
12325024 |
2002 |
3 |
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
6
61
54
|
Braverman N...Valle D
|
10673331 |
2000 |
4 |
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
54
61
6
|
Shimozawa N...Kondo N
|
10083738 |
1999 |
5 |
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
6
54
61
|
Braverman N...Valle D
|
9090381 |
1997 |
6 |
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
6
61
54
|
Purdue PE...Lazarow PB
|
9090383 |
1997 |
7 |
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
6
54
61
|
Clayton PT...Schutgens RB
|
7530787 |
1994 |
8 |
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
61
6
|
Itzkovitz B...Braverman N
|
21990100 |
2012 |
9 |
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
6
61
|
Motley AM...Waterham HR
|
11781871 |
2002 |
10 |
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
6
61
|
Ofman R...Wanders RJ
|
9536089 |
1998 |
11 |
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.
6
61
|
de Vet EC...van den Bosch H
|
9553082 |
1998 |
12 |
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
61
6
|
Motley AM...Distel B
|
9090382 |
1997 |
13 |
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
61
6
|
Suzuki Y...Orii T
|
8295403 |
1993 |
14 |
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother.
6
61
|
Castillo-Taucher S...Geldres V
|
1773541 |
1991 |
15 |
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
61
20
|
Duker AL...Bober MB
|
27616591 |
2017 |
16 |
Impaired membrane traffic in defective ether lipid biosynthesis.
6
|
Thai TP...Just WW
|
11152660 |
2001 |
17 |
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.
6
|
Elias ER...Moser AB
|
9843043 |
1998 |
18 |
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.
6
|
Wanders RJ...Lecoutere D
|
7807941 |
1994 |
19 |
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
6
|
Wanders RJ...Tager JM
|
1405476 |
1992 |
20 |
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
54
61
|
Phadke SR...Braverman N
|
20145307 |
2010 |
21 |
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
61
54
|
Biermann J...van den Bosch H
|
10683770 |
1999 |
22 |
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
61
54
|
Wanders RJ...Romeijn GJ
|
9686383 |
1998 |
23 |
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
61
54
|
Wanders RJ...Romeijn GJ
|
9647750 |
1998 |
24 |
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
61
54
|
Jansen GA...Wanders RJ
|
9266377 |
1997 |
25 |
Chondrodysplasia punctata with a mild clinical course.
54
61
|
Nuoffer JM...Wiesmann UN
|
7914249 |
1994 |
26 |
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
61
54
|
Suzuki Y...Orii T
|
8059925 |
1994 |
27 |
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
61
54
|
Barr DG...Schutgens RB
|
8466247 |
1993 |
28 |
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.
61
54
|
Hughes JL...Sillence D
|
1468458 |
1992 |
29 |
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
61
|
Masih S...Phadke SR
|
33586206 |
2021 |
30 |
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
61
|
Fallatah W...Braverman N
|
33337545 |
2020 |
31 |
General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report.
61
|
Yardimci-Lokmanoglu BN...Livanelioglu A
|
33161810 |
2020 |
32 |
Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
61
|
Batista M...Ramos L
|
33147667 |
2020 |
33 |
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice.
61
|
Todt H...Berger J
|
32441337 |
2020 |
34 |
Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.
61
|
Milliken M...Cipriano SD
|
32748967 |
2020 |
35 |
Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice.
61
|
Koch J...Keller MA
|
32692545 |
2020 |
36 |
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.
61
|
Samanta D
|
31853509 |
2020 |
37 |
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
61
|
Duker AL...Bober MB
|
31769196 |
2020 |
38 |
The type-2 peroxisomal targeting signal.
61
|
Kunze M
|
31751594 |
2020 |
39 |
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.
61
|
Fallatah W...Braverman N
|
31862688 |
2020 |
40 |
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.
61
|
Abousamra O...Mackenzie WG
|
31503224 |
2019 |
41 |
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.
61
|
Malheiro AR...Brites P
|
30667116 |
2019 |
42 |
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
61
|
Subhashini P...Naushad SM
|
30295825 |
2019 |
43 |
Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.
61
|
Dorninger F...Berger J
|
28555889 |
2017 |
44 |
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
61
|
Landino J...Iben SC
|
29068853 |
2017 |
45 |
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
61
|
Muratoglu Sahin N...Aycan Z
|
28742517 |
2017 |
46 |
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
61
|
Herzog K...Ferdinandusse S
|
28566232 |
2017 |
47 |
Drosophila Courtship Conditioning As a Measure of Learning and Memory.
61
|
Koemans TS...Kramer JM
|
28605393 |
2017 |
48 |
[Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].
61
|
Gonzalez-Ortiz CL...Contreras-Garcia GA
|
28898320 |
2017 |
49 |
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
61
|
Klouwer FC...Poll-The BT
|
27089543 |
2016 |
50 |
PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.
61
|
Erdogdu E...Andan C
|
30226976 |
2016 |