| 1 |
Sideroblastic anemia associated with multisystem mitochondrial disorders. ( 30588737
)
|
Tesarova M...Zeman J
|
2019 |
| 2 |
The molecular genetics of sideroblastic anemia. ( 30401706
)
|
Ducamp S...Fleming MD
|
2019 |
| 3 |
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia. ( 30660387
)
|
Daher R...Karim Z
|
2019 |
| 4 |
PKD1L1-related situs inversus associated with sideroblastic anemia. ( 30791085
)
|
Rodriguez S...Dror Y
|
2019 |
| 5 |
Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia. ( 30912988
)
|
Imataki O...Kadowaki N
|
2019 |
| 6 |
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia. ( 30214775
)
|
Kim MH...Shah NC
|
2018 |
| 7 |
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
|
2018 |
| 8 |
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. ( 30026338
)
|
Riley LG...Fleming MD
|
2018 |
| 9 |
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. ( 29976739
)
|
Smith F...Kulasekararaj AG
|
2018 |
| 10 |
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060
)
|
Furuyama K...Kaneko K
|
2018 |
| 11 |
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 |
| 12 |
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 |
| 13 |
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395
)
|
Yu HJ...Kwon MJ
|
2018 |
| 14 |
Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. ( 29787825
)
|
Long Z...Han B
|
2018 |
| 15 |
Five-aminolevulinic acid: New approach for congenital sideroblastic anemia. ( 29878633
)
|
Ishida H...Harigae H
|
2018 |
| 16 |
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199
)
|
Kaneko K...Furuyama K
|
2018 |
| 17 |
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. ( 30006447
)
|
Berhe S...Fleming MD
|
2018 |
| 18 |
Congenital sideroblastic anemia in a female. ( 30040160
)
|
Hanina S...Layton DM
|
2018 |
| 19 |
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 30098397
)
|
Fujiwara T...Harigae H
|
2018 |
| 20 |
Delayed diagnosis of congenital sideroblastic anemia. ( 30502842
)
|
Abu-Zeinah G...Geyer J
|
2018 |
| 21 |
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625
)
|
Li G...Hilliard LM
|
2017 |
| 22 |
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation. ( 28832011
)
|
Kasapkara ?S...Zeviani M
|
2017 |
| 23 |
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574
)
|
Torraco A...Carrozzo R
|
2017 |
| 24 |
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 |
| 25 |
Congenital sideroblastic anemia of a Saudi child. ( 29213171
)
|
ALBagshi MH...Albagshi HM
|
2017 |
| 26 |
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690
)
|
Datta-Mitra A...Dwyre DM
|
2017 |
| 27 |
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927
)
|
Falcon CP...Howard TH
|
2017 |
| 28 |
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307
)
|
Susanto TAK...Bhattacharyya R
|
2017 |
| 29 |
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034
)
|
Lee JS...Kim HK
|
2017 |
| 30 |
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922
)
|
Bhatia P...Hedge A
|
2017 |
| 31 |
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256
)
|
Le Rouzic MA...Vannier JP
|
2017 |
| 32 |
Biology of sideroblastic anemia. ( 28484165
)
|
Harigae H
|
2017 |
| 33 |
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577
)
|
Riley LG...Christodoulou J
|
2016 |
| 34 |
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056
)
|
Katsurada T...Yoshida Y
|
2016 |
| 35 |
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761
)
|
Mangum JE...Patton JR
|
2016 |
| 36 |
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380
)
|
Fern?ndez-Murray JP...McMaster CR
|
2016 |
| 37 |
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157
)
|
LeBlanc MA...Fernandez CV
|
2016 |
| 38 |
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955
)
|
M?ndez M...Mor?n-Jim?nez MJ
|
2016 |
| 39 |
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349
)
|
Lichtenstein DA...Fleming MD
|
2016 |
| 40 |
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446
)
|
Visconte V...Tiu RV
|
2015 |
| 41 |
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931
)
|
An W...Guo Y
|
2015 |
| 42 |
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070
)
|
Schmitz-Abe K...Fleming MD
|
2015 |
| 43 |
A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia. ( 29201689
)
|
Mahtab MA...Rahman S
|
2015 |
| 44 |
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 SM...Nabo MM
|
2014 |
| 45 |
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. ( 24430573
)
|
Nakajima J...Miyake N
|
2014 |
| 46 |
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 LC...Scaglia F
|
2014 |
| 47 |
Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. ( 23935018
)
|
Kaneko K...Shibahara S
|
2014 |
| 48 |
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. ( 24166784
)
|
Campagna DR...Fleming MD
|
2014 |
| 49 |
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia. ( 24624355
)
|
Moon SY...Yoon SS
|
2014 |
| 50 |
Sideroblastic anemia: diagnosis and management. ( 25064706
)
|
Bottomley SS...Fleming MD
|
2014 |
