Literature DB >> 2512426

Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.

E Holme1, M Kyllerman, S Lindstedt.   

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Year:  1989        PMID: 2512426     DOI: 10.1007/bf03335398

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


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  5 in total

1.  Glutaric aciduria; a "new" disorder of amino acid metabolism.

Authors:  S I Goodman; S P Markey; P G Moe; B S Miles; C C Teng
Journal:  Biochem Med       Date:  1975-01

2.  Intermittently progressive dyskinetic syndrome in glutaric aciduria.

Authors:  M Kyllerman; G Steen
Journal:  Neuropadiatrie       Date:  1977-11

3.  Glutaric aciduria in progressive choreo-athetosis.

Authors:  N J Brandt; S Brandt; E Christensen; N Gregersen; K Rasmussen
Journal:  Clin Genet       Date:  1978-01       Impact factor: 4.438

4.  Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria.

Authors:  E Christensen; N J Brandt
Journal:  Clin Chim Acta       Date:  1978-09-01       Impact factor: 3.786

5.  Antenatal diagnosis of glutaric acidemia.

Authors:  S I Goodman; D A Gallegos; C J Pullin; B Halpern; R J Truscott; G Wise; B Wilcken; E D Ryan; D T Whelen
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025

  5 in total
  2 in total

1.  Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Authors:  K B Bjugstad; L S Crnic; S I Goodman; C R Freed
Journal:  J Inherit Metab Dis       Date:  2006-08-30       Impact factor: 4.982

2.  Macrocephaly: an important indication for organic acid analysis.

Authors:  G F Hoffmann; F K Trefz; P G Barth; H J Böhles; W Lehnert; E Christensen; J Valk; D Rating; H J Bremer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

  2 in total

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