Literature DB >> 117238

Prenatal diagnosis and a case report of isovaleric acidaemia.

M E Blaskovics, W G Ng, G N Donnell.   

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Year:  1978        PMID： 117238     DOI： 10.1007/bf01805706

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Diagnosis of isovaleric acidemia in cultured fibroblasts.

Authors:  V E Shih; R Mandell; K Tanaka
Journal:  Clin Chim Acta       Date:  1973-11-15       Impact factor: 3.786

2.  Volatile fatty acids in normal human physiological fluids.

Authors:  T L Perry; S Hansen; S Diamond; B Bullis; C Mok; S B Melançon
Journal:  Clin Chim Acta       Date:  1970-09       Impact factor: 3.786
  2 in total
  5 in total

1.  Pyruvate carboxylase defect: metabolic studies on cultured skin fibroblasts.

Authors:  J Oizumi; W G Ng; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.

Authors:  Y K Xu; W G Ng; F R Kaufman; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.

Authors:  B Dubiel; C Dabrowski; R Wetts; K Tanaka
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

5.  Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Authors:  Sarah C Grünert; Udo Wendel; Martin Lindner; Michael Leichsenring; K Otfried Schwab; Jerry Vockley; Willy Lehnert; Regina Ensenauer
Journal:  Orphanet J Rare Dis       Date:  2012-01-25       Impact factor: 4.123
  5 in total

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