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Sylvia S Bottomley

Showing results (11-20 of 22) with videos related to

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Blood|February 6, 2025
X-linked sideroblastic anemia in femalesSarah Ducamp, Dean R Campagna, Anoop K Sendamarai, et al.
The International Journal of Biochemistry & Cell Biology|December 4, 2003
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesisTimothy C Cox, Timothy J Sadlon, Quenten P Schwarz, et al.
Biochimica Et Biophysica Acta|April 11, 2003
5-Aminolevulinic acid synthase: mechanism, mutations and medicinePeter M Shoolingin-Jordan, Sooad Al-Daihan, Dmitriy Alexeev, et al.
The Journal of Clinical Investigation|July 8, 2020
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemiaAndrew Crispin, Chaoshe Guo, Caiyong Chen, et al.
Nature Genetics|May 5, 2009
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemiaDuane L Guernsey, Haiyan Jiang, Dean R Campagna, et al.
Blood|August 5, 2016
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemiaDaniel A Lichtenstein, Andrew W Crispin, Anoop K Sendamarai, et al.
Blood|April 5, 2013
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)Daniel H Wiseman, Alison May, Stephen Jolles, et al.
American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.
Human Mutation|July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literatureMatthew M Heeney, Simon Berhe, Dean R Campagna, et al.
Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Blood|February 6, 2025
X-linked sideroblastic anemia in femalesSarah Ducamp, Dean R Campagna, Anoop K Sendamarai, et al.
The International Journal of Biochemistry & Cell Biology|December 4, 2003
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesisTimothy C Cox, Timothy J Sadlon, Quenten P Schwarz, et al.
Biochimica Et Biophysica Acta|April 11, 2003
5-Aminolevulinic acid synthase: mechanism, mutations and medicinePeter M Shoolingin-Jordan, Sooad Al-Daihan, Dmitriy Alexeev, et al.
The Journal of Clinical Investigation|July 8, 2020
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemiaAndrew Crispin, Chaoshe Guo, Caiyong Chen, et al.
Nature Genetics|May 5, 2009
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemiaDuane L Guernsey, Haiyan Jiang, Dean R Campagna, et al.
Blood|August 5, 2016
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemiaDaniel A Lichtenstein, Andrew W Crispin, Anoop K Sendamarai, et al.
Blood|April 5, 2013
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)Daniel H Wiseman, Alison May, Stephen Jolles, et al.
American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.
Human Mutation|July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literatureMatthew M Heeney, Simon Berhe, Dean R Campagna, et al.
Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Pageof 3