Literature DB >> 7252694

Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.

L Cathelineau, P Briand, H Ogier, C Charpentier, F X Coude, J M Saudubray.   

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Year:  1981        PMID： 7252694     DOI： 10.1016/s0022-3476(81)80478-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

Authors:  J M Saudubray; H Ogier; J P Bonnefont; A Munnich; A Lombes; F Hervé; G Mitchel; B P Thé; N Specola; P Parvy
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

Authors:  K M Gibson; J Breuer; K Kaiser; W L Nyhan; E E McCoy; P Ferreira; C L Greene; M G Blitzer; E Shapira; F Reverte
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Authors:  Nicholas Ah Mew; Irma Payan; Yevgeny Daikhin; Ilana Nissim; Itzhak Nissim; Mendel Tuchman; Marc Yudkoff
Journal:  Mol Genet Metab       Date:  2009-07-14       Impact factor: 4.797

4.  Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.

Authors:  J M Saudubray; H Ogier; C Charpentier; E Depondt; F X Coudé; A Munnich; G Mitchell; F Rey; J Rey; J Frézal
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 5.  α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycle.

Authors:  Arthur J L Cooper; Tomiko Kuhara
Journal:  Metab Brain Dis       Date:  2013-11-14       Impact factor: 3.584

Review 6.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

7.  Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.

Authors:  Zafer Bicakci
Journal:  Medicine (Baltimore)       Date:  2015-03       Impact factor: 1.889
  7 in total

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