| 1 |
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060
)
|
Furuyama K....Kaneko K.
|
2018 |
| 2 |
Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. ( 29787825
)
|
Long Z....Han B.
|
2018 |
| 3 |
Five-aminolevulinic acid: New approach for congenital sideroblastic anemia. ( 29878633
)
|
Ishida H....Harigae H.
|
2018 |
| 4 |
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199
)
|
Kaneko K....Furuyama K.
|
2018 |
| 5 |
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. ( 29976739
)
|
Smith F....Kulasekararaj A.G.
|
2018 |
| 6 |
Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. ( 29499877
)
|
Mehri M....Neishabury M.
|
2018 |
| 7 |
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395
)
|
Yu H.J....Kwon M.J.
|
2018 |
| 8 |
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427
)
|
Hatta S....Harigae H.
|
2018 |
| 9 |
Congenital sideroblastic anemia of a Saudi child. ( 29213171
)
|
ALBagshi M.H....Albagshi H.M.
|
2017 |
| 10 |
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690
)
|
Datta-Mitra A....Dwyre D.M.
|
2017 |
| 11 |
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. ( 29170023
)
|
Lougaris V....Plebani A.
|
2017 |
| 12 |
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. ( 28840292
)
|
Fujiwara T....Harigae H.
|
2017 |
| 13 |
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922
)
|
Bhatia P....Hedge A.
|
2017 |
| 14 |
Biology of sideroblastic anemia. ( 28484165
)
|
Harigae H.
|
2017 |
| 15 |
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034
)
|
Lee J.S....Kim H.K.
|
2017 |
| 16 |
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256
)
|
Le Rouzic M.A....Vannier J.P.
|
2017 |
| 17 |
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927
)
|
Falcon C.P....Howard T.H.
|
2017 |
| 18 |
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation. ( 28832011
)
|
Kasapkara A.8.S....Zeviani M.
|
2017 |
| 19 |
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625
)
|
Li G....Hilliard L.M.
|
2017 |
| 20 |
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307
)
|
Susanto T.A.K....Bhattacharyya R.
|
2017 |
| 21 |
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761
)
|
Mangum J.E....Patton J.R.
|
2016 |
| 22 |
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955
)
|
MAcndez M....MorA!n-JimAcnez M.J.
|
2016 |
| 23 |
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056
)
|
Katsurada T....Yoshida Y.
|
2016 |
| 24 |
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380
)
|
FernA!ndez-Murray J.P....McMaster C.R.
|
2016 |
| 25 |
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157
)
|
Leblanc M.A....Fernandez C.V.
|
2016 |
| 26 |
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349
)
|
Lichtenstein D.A....Fleming M.D.
|
2016 |
| 27 |
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574
)
|
Torraco A....Carrozzo R.
|
2016 |
| 28 |
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070
)
|
Schmitz-Abe K....Fleming M.D.
|
2015 |
| 29 |
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931
)
|
An W....Guo Y.
|
2015 |
| 30 |
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577
)
|
Riley L.G....Christodoulou J.
|
2015 |
| 31 |
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446
)
|
Visconte V....Tiu R.V.
|
2014 |
| 32 |
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871
)
|
Chakraborty P.K....Fleming M.D.
|
2014 |
| 33 |
Transfer RNA and syndromic sideroblastic anemia. ( 25359985
)
|
Iolascon A.
|
2014 |
| 34 |
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. ( 25330540
)
|
Shweta G....Shashvat S.
|
2014 |
| 35 |
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667
)
|
Liu G....Nie G.
|
2014 |
| 36 |
Sideroblastic anemia: diagnosis and management. ( 25064706
)
|
Bottomley S.S....Fleming M.D.
|
2014 |
| 37 |
Percutaneous excretion of iron and ferritin (through Al-hijamah) as a novel treatment for iron overload in beta-thalassemia major, hemochromatosis and sideroblastic anemia. ( 24857772
)
|
El Sayed S.M....Nabo M.M.
|
2014 |
| 38 |
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. ( 25037980
)
|
Burrage L.C....Scaglia F.
|
2014 |
| 39 |
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573
)
|
Nakajima J....Miyake N.
|
2014 |
| 40 |
Effect of 5-aminolevulinic acid on erythropoiesis: A preclinical in vitro characterization for the treatment of congenital sideroblastic anemia. ( 25450364
)
|
Fujiwara T....Harigae H.
|
2014 |
| 41 |
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355
)
|
Moon S.Y....Yoon S.S.
|
2014 |
| 42 |
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). ( 22983749
)
|
Ohba R....Harigae H.
|
2013 |
| 43 |
Pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 24003969
)
|
Fujiwara T....Harigae H.
|
2013 |
| 44 |
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784
)
|
Campagna D.R....Fleming M.D.
|
2013 |
| 45 |
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769
)
|
Wiseman D.H....Wynn R.F.
|
2013 |
| 46 |
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia. ( 23935018
)
|
Kaneko K....Shibahara S.
|
2013 |
| 47 |
Sideroblastic anemia secondary to zinc toxicity. ( 24032127
)
|
Sheqwara J....Alkhatib Y.
|
2013 |
| 48 |
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. ( 23918765
)
|
Shahni R....Rahman S.
|
2013 |
| 49 |
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. ( 24323989
)
|
Liu G....Nie G.
|
2013 |
| 50 |
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the I^-subunit of succinyl-CoA synthetase (SUCLA2). ( 22740690
)
|
Bishop D.F....Margolis S.
|
2012 |
