Literature DB >> 5648598

Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

L E Rosenberg, A C Lilljeqvist, Y E Hsia.   

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Year:  1968        PMID: 5648598     DOI: 10.1056/NEJM196806132782404

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  23 in total

1.  FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Authors:  Irini Manoli; Justin R Sysol; Madeline W Epping; Lina Li; Cindy Wang; Jennifer L Sloan; Alexandra Pass; Jack Gagné; Yiouli P Ktena; Lingli Li; Niraj S Trivedi; Bazoumana Ouattara; Patricia M Zerfas; Victoria Hoffmann; Mones Abu-Asab; Maria G Tsokos; David E Kleiner; Caterina Garone; Kristina Cusmano-Ozog; Gregory M Enns; Hilary J Vernon; Hans C Andersson; Stephanie Grunewald; Abdel G Elkahloun; Christiane L Girard; Jurgen Schnermann; Salvatore DiMauro; Eva Andres-Mateos; Luk H Vandenberghe; Randy J Chandler; Charles P Venditti
Journal:  JCI Insight       Date:  2018-12-06

Review 2.  Genetic and genomic systems to study methylmalonic acidemia.

Authors:  R J Chandler; C P Venditti
Journal:  Mol Genet Metab       Date:  2005-09-22       Impact factor: 4.797

Review 3.  Genetical theory and the "inborn errors of metabolism".

Authors:  H Harris
Journal:  Br Med J       Date:  1970-02-07

4.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

5.  The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.

Authors:  H Koyata; K Hiraga
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

Review 6.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

7.  Megavitamin therapy in inherited metabolic disorders.

Authors:  S C Kalhan
Journal:  Indian J Pediatr       Date:  1981 Sep-Oct       Impact factor: 1.967

Review 8.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Authors:  D Leupold
Journal:  Klin Wochenschr       Date:  1977-01-15

9.  The inhibition by methylmalonic acid of malate transport by the dicarboxylate carrier in rat liver mitochondria. A possible explantation for hypoglycemia in methylmalonic aciduria.

Authors:  M L Halperin; C M Schiller; I B Fritz
Journal:  J Clin Invest       Date:  1971-11       Impact factor: 14.808

10.  Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.

Authors:  K Hiraga; H Kochi; K Hayasaka; G Kikuchi; W L Nyhan
Journal:  J Clin Invest       Date:  1981-08       Impact factor: 14.808

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