Literature DB >> 7564239

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

G F Hoffmann1, H J Böhles, A Burlina, M Duran, J Herwig, W Lehnert, J V Leonard, A Muntau, F K Plecko-Starting, A Superti-Furga.   

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Year:  1995        PMID： 7564239     DOI： 10.1007/BF00711759

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


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  7 in total

1.  Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

Authors:  G F Hoffmann; F K Trefz; P G Barth; H J Böhles; B Biggemann; H J Bremer; E Christensen; M Frosch; F Hanefeld; D H Hunneman
Journal:  Pediatrics       Date:  1991-12       Impact factor: 7.124

2.  Subdural hematoma and glutaric aciduria type 1.

Authors:  P Drigo; A B Burlina; P A Battistella
Journal:  Brain Dev       Date:  1993 Nov-Dec       Impact factor: 1.961

3.  Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.

Authors:  N Amir; O N Elpeleg; R S Shalev; E Christensen
Journal:  J Pediatr       Date:  1989-06       Impact factor: 4.406

4.  Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1.

Authors:  H Osaka; S Kimura; A Nezu; S Yamazaki; K Saitoh; S Yamaguchi
Journal:  Brain Dev       Date:  1993 Mar-Apr       Impact factor: 1.961

5.  Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

Authors:  D H Morton; M J Bennett; L E Seargeant; C A Nichter; R I Kelley
Journal:  Am J Med Genet       Date:  1991-10-01

6.  Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.

Authors:  J C Haworth; F A Booth; A E Chudley; G W deGroot; L A Dilling; S I Goodman; C R Greenberg; C J Mallory; B M McClarty; S S Seshia
Journal:  J Pediatr       Date:  1991-01       Impact factor: 4.406

7.  Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.

Authors:  M Kyllerman; O H Skjeldal; M Lundberg; I Holme; E Jellum; U von Döbeln; A Fossen; G Carlsson
Journal:  Mov Disord       Date:  1994-01       Impact factor: 10.338
  7 in total
  2 in total

1.  Recurrent rhabdomyolysis in a child with glutaric aciduria type I.

Authors:  C J Wilson; J E Collins; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.

Authors:  Siti Aishah Abdul Wahab; Yusnita Yakob; Nor Azimah Abdul Azize; Zabedah Md Yunus; Leong Huey Yin; Mohd Khairul Nizam Mohd Khalid; Ngu Lock Hock
Journal:  Biomed Res Int       Date:  2016-09-08       Impact factor: 3.411
  2 in total

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