Literature DB >> 4103667

Biotin-responsive beta-methylcrotonylglycinuria.

D Gompertz, G H Draffan, J L Watts, D Hull.   

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Year:  1971        PMID: 4103667     DOI: 10.1016/s0140-6736(71)90009-2

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  29 in total

1.  N-Dicarboxylmonoglycines: excretion in dicarboxylic acidurias and mode of formation.

Authors:  I H Grøn; N Gregersen; K Rasmussen
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

Review 2.  Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.

Authors:  A J Michalski; G T Berry; S Segal
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

4.  Mitochondrial inclusions in fibroblast culture from a patient with beta-methylcrotonylglycinuria.

Authors:  J McLean; G Stewart
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

5.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Organic aciduria. Treatable cause of floppy infant syndrome.

Authors:  B R Keeton
Journal:  Arch Dis Child       Date:  1976-08       Impact factor: 3.791

7.  A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

Authors:  W Lehnert; H Niederhoff; A Junker; H Saule; W Frasch
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183

8.  Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.

Authors:  A Munnich; J M Saudubray; A Cotisson; F X Coudĕ; H Ogier; C Charpentier; C Marsac; G Carrĕ; M Bourgeay-Causse; J Frĕzal
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

9.  Organic aciduria in neonatal multiple carboxylase deficiency.

Authors:  L Sweetman; W L Nyhan; N A Sakati; A Ohlsson; M S Mange; R B Boychuk; R Kaye
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

Authors:  S Packman; N Caswell; M C Gonzalez-Rios; T Kadlecek; H Cann; D Rassin; C McKay
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

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