Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment-Reference-Cited by-同舟云学术

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

Published:2021-10-21 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Kripps Kimberly A.¹²^ORCID,Sremba Leighann¹,Larson Austin A.¹,Van Hove Johan L.K.¹,Nguyen Hoanh¹,Wright Erica L.¹,Mirsky David M.³,Watkins David⁴,Rosenblatt David S.⁴,Ketteridge David⁵,Berry Susan A.⁶,McCandless Shawn E.¹,Baker Peter R.¹

Affiliation:

1. Section of Genetics and Metabolism University of Colorado Anschutz Medical Campus Aurora Colorado USA

2. Department of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon USA

3. Department of Radiology University of Colorado, and Children's Hospital Colorado Aurora Colorado USA

4. Department of Human Genetics McGill University Montreal Quebec Canada

5. Department of Genetics and Molecular Pathology Women's and Children's Hospital Adelaide South Australia Australia

6. Department of Pediatrics, Division of Genetics and Metabolism University of Minnesota Minneapolis Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12448

Reference31 articles.

1. Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

3. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

4. Seizures Induced by Homocysteine in Rats During Ontogenesis

5. Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

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