Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery
Reference8 articles.
1. Inborn errors of cobalamin absorption and metabolism;Watkins;Am J Med Genet Part C Semin Med Genet,2011
2. Leukoencephalopathies associated with disorders of cobalamin and folate metabolism;Wilcken;Semin Neurol,2012
3. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression;Zavadáková;Hum Mutat,2005
4. Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine;Steen;J Inherit Metab Dis,1997
5. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families;Zavadáková;J Inherit Metab Dis,2002
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1. Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?;JIMD Reports;2024-04-15
2. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review;Human Genetics;2021-10-15
3. Alterations in methionine to homocysteine ratio in individuals with first-episode psychosis and those with at-risk mental state;Clinical Biochemistry;2020-03
4. Delayed diagnosis of cobalamin E defect in an adolescent patient;Journal of Pediatric Neurosciences;2020
5. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening;Genetics in Medicine;2016-02
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