Associated Papers
Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report.
Ruan J et al.
Bmc Medical Genetics, 2020
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2020
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.
Ferrand A et al.
Jimd Reports, 2015
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Boina Abdallah A et al.
Molecular Genetics and Metabolism, 2012
Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF.
Ament AE et al.
British Journal of Haematology, 2009
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Tanner SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
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