Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs-Reference-Cited by-同舟云学术

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs

Published:1982-07 Issue:4 Volume:138 Page:351-354
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Beemer F. A.,Bartlett K.,Duran M.,Ghneim H. K.,Wadman S. K.,Bruinvis L.,Ketting D.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00442517.pdf

Reference18 articles.

1. Bartlett K, Gompertz D (1974) The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias. Biochem Med 10:15?23

2. Bartlett K, Green A, Leonard JV, Ng H, Dale G (1981) Studies on inherited defects of biotin-dependent carboxylases in cultured human fibroblasts. J Inher Metab Dis 4:183?189

3. Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE (1970) ?-Hydroxyisovaleric aciduria and ?-methylcrotonylglycinuria?a new inborn error of metabolism. Lancet II: 521?522

4. Eveleth PB, Tanner JM (1976) Worldwide Variation in Human Growth. Cambridge University Press, Cambridge

5. Feldman GL, Wolf B (1981) Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency. Clin Chim Acta 111:147?151

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1. 3-Methycrotonyl-CoA Carboxylase Deficiency: Types I and II;Genetic Syndromes;2023

2. Biotin;Biotin and Other Interferences in Immunoassays;2019

3. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD;Genetics in Medicine;2015-08

4. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening;Molecular Genetics and Metabolism;2012-08

5. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals;Orphanet Journal of Rare Diseases;2012-05-29

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