Literature DB >> 1770785

Macrocephaly: an important indication for organic acid analysis.

G F Hoffmann1, F K Trefz, P G Barth, H J Böhles, W Lehnert, E Christensen, J Valk, D Rating, H J Bremer.   

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Year:  1991        PMID： 1770785     DOI： 10.1007/bf01811695

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


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  5 in total

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

Authors:  E Holme; M Kyllerman; S Lindstedt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Glutaric aciduria. A "common" metabolic disorder?

Authors:  M Kyllerman; G Steen
Journal:  Arch Fr Pediatr       Date:  1980-04

3.  Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.

Authors:  G Hoffmann; S Aramaki; E Blum-Hoffmann; W L Nyhan; L Sweetman
Journal:  Clin Chem       Date:  1989-04       Impact factor: 8.327

4.  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

Review 5.  Acute profound dystonia in infants with glutaric acidemia.

Authors:  I Bergman; D Finegold; J C Gartner; B J Zitelli; D Claassen; J Scarano; C R Roe; C Stanley; S I Goodman
Journal:  Pediatrics       Date:  1989-02       Impact factor: 7.124
  5 in total
  7 in total

1.  Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Authors:  A Ribes; E Riudor; P Briones; E Christensen; J Campistol; D S Millington
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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

3.  L-2-hydroxyglutaric aciduria: three Australian cases.

Authors:  B Wilcken; J Pitt; D Heath; P Walsh; G Wilson; N Buchanan
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 4.  Neurological manifestations of organic acid disorders.

Authors:  G F Hoffmann; K M Gibson; F K Trefz; W L Nyhan; H J Bremer; D Rating
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

Review 5.  Neuroradiological and neurophysiological indices for neurometabolic disorders.

Authors:  A Kohlschütter
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

Review 6.  Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.

Authors:  Marloes E M Vester; Rob A C Bilo; Wouter A Karst; Joost G Daams; Wilma L J M Duijst; Rick R van Rijn
Journal:  Forensic Sci Med Pathol       Date:  2015-07-29       Impact factor: 2.007

7.  Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Authors:  Nikolas Boy; Jana Heringer; Renate Brackmann; Olaf Bodamer; Angelika Seitz; Stefan Kölker; Inga Harting
Journal:  Orphanet J Rare Dis       Date:  2017-04-24       Impact factor: 4.123
  7 in total

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