Literature DB >> 12872850

D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.

X Wang1, C Jakobs, E V Bawle.   

Abstract

We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should raise the suspicion for metabolic disease, and especially organic acidurias.

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Year:  2003        PMID： 12872850     DOI： 10.1023/a:1024000202364

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


  7 in total

1.  D-2-hydroxyglutaric aciduria: further clinical delineation.

Authors:  M S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; R I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Authors:  M S van der Knaap; C Jakobs; G F Hoffmann; W L Nyhan; W O Renier; J A Smeitink; C E Catsman-Berrevoets; O Hjalmarson; H Vallance; K Sugita; C M Bowe; J T Herrin; W J Craigen; N R Buist; D S Brookfield; R A Chalmers
Journal:  Ann Neurol       Date:  1999-01       Impact factor: 10.422

3.  D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.

Authors:  N S Baker; H B Sarnat; R M Jack; K Patterson; D W Shaw; S P Herndon
Journal:  J Child Neurol       Date:  1997-01       Impact factor: 1.987

Review 4.  Facial anomalies in D-2-hydroxyglutaric aciduria.

Authors:  J Amiel; P de Lonlay; C Francannet; A Picard; H Bruel; D Rabier; M Le Merrer; N Verhoeven; C Jakobs; S Lyonnet; A Munnich
Journal:  Am J Med Genet       Date:  1999-09-10

5.  D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.

Authors:  O Eeg-Olofsson; W W Zhang; Y Olsson; S Jagell; L Hagenfeldt
Journal:  J Child Neurol       Date:  2000-07       Impact factor: 1.987

6.  Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.

Authors:  K M Gibson; H J ten Brink; D S Schor; R M Kok; A H Bootsma; G F Hoffmann; C Jakobs
Journal:  Pediatr Res       Date:  1993-09       Impact factor: 3.756

7.  D-2-hydroxyglutaric aciduria.

Authors:  W L Nyhan; G D Shelton; C Jakobs; B Holmes; C Bowe; C J Curry; C Vance; M Duran; L Sweetman
Journal:  J Child Neurol       Date:  1995-03       Impact factor: 1.987
  7 in total
  3 in total

1.  Mutant IDH1 and thrombosis in gliomas.

Authors:  Dusten Unruh; Steven R Schwarze; Laith Khoury; Cheddhi Thomas; Meijing Wu; Li Chen; Rui Chen; Yinxing Liu; Margaret A Schwartz; Christina Amidei; Priya Kumthekar; Carolina G Benjamin; Kristine Song; Caleb Dawson; Joanne M Rispoli; Girish Fatterpekar; John G Golfinos; Douglas Kondziolka; Matthias Karajannis; Donato Pacione; David Zagzag; Thomas McIntyre; Matija Snuderl; Craig Horbinski
Journal:  Acta Neuropathol       Date:  2016-09-23       Impact factor: 17.088

Review 2.  Neurometabolic diseases of childhood.

Authors:  Zoltan Patay; Susan I Blaser; Andrea Poretti; Thierry A G M Huisman
Journal:  Pediatr Radiol       Date:  2015-09-07

Review 3.  Progress in understanding 2-hydroxyglutaric acidurias.

Authors:  Martijn Kranendijk; Eduard A Struys; Gajja S Salomons; Marjo S Van der Knaap; Cornelis Jakobs
Journal:  J Inherit Metab Dis       Date:  2012-03-06       Impact factor: 4.982
  3 in total

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