Concepedia

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

Paige Kaplan, Alice Mazur, Michael Palmieri, Gerard T. Berry

Molecular Genetics and Metabolism · 2006 · 82 citations · 24 references

DOI

Concepts

References

24

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

V. G. Oberholzer, B. Levin, E A Burgess et al. · Archives of Disease in Childhood · 1967 · 331 citations · Full text

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The Natural History of the Inherited Methylmalonic Acidemias

Suzanne M. Matsui, Maurice J. Mahoney, León E. Rosenberg · New England Journal of Medicine · 1983 · 320 citations

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Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

Randall A. Heidenreich, Marvin R. Natowicz, Bryan E. Hainline et al. · The Journal of Pediatrics · 1988 · 147 citations

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Neurological outcome of methylmalonic acidaemia

Paola Nicolaides, James V. Leonard, R. Surtees · Archives of Disease in Childhood · 1998 · 132 citations · Full text

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