Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up-Reference-Cited by-同舟云学术

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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up

Published:2013-12 Issue:4 Volume:110 Page:472-476
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Haarmann A.,Mayr M.,Kölker S.,Baumgartner E.R.,Schnierda J.,Hopfer H.,Devuyst O.,Baumgartner M.R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis;Oberholzer;Arch. Dis. Child.,1967

2. Causes of and diagnostic approach to methylmalonic acidurias;Fowler;J. Inherit. Metab. Dis.,2008

3. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut− , cblA, cblB);Hörster;Pediatr. Res.,2007

4. Renal tubular dysfunction in methylmalonic acidaemia;D'Angio;Eur. J. Pediatr.,1991

5. The natural history of the inherited methylmalonic acidemias;Matsui;N. Engl. J. Med.,1983

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3. Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects;Journal of Inherited Metabolic Disease;2023-08-29

4. Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2023-02

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