Literature DB >> 18362286

A successfully treated adult patient with L-2-hydroxyglutaric aciduria.

M Samuraki1, K Komai, Y Hasegawa, M Kimura, S Yamaguchi, N Terada, M Yamada.   

Abstract

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Year:  2008        PMID： 18362286     DOI： 10.1212/01.wnl.0000287141.90944.95

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  14 in total

1.  L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

Authors:  Shiv Saidha; Sinead Murphy; Peter McCarthy; Philip D Mayne; Michael Hennessy
Journal:  J Neurol       Date:  2010-01       Impact factor: 4.849

2.  Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.

Authors:  M Kranendijk; G S Salomons; K M Gibson; C Aktuglu-Zeybek; S Bekri; E Christensen; J Clarke; A Hahn; S H Korman; V Mejaski-Bosnjak; A Superti-Furga; C Vianey-Saban; M S van der Knaap; C Jakobs; E A Struys
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

3.  L-2-hydroxyglutaric aciduria: report of two Indian families.

Authors:  Mahesh Kamate; Gowda Parameshwar Prashanth; Virupaxi Hattiholi
Journal:  Indian J Pediatr       Date:  2013-09-15       Impact factor: 1.967

Review 4.  L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.

Authors:  E Van Schaftingen; R Rzem; M Veiga-da-Cunha
Journal:  J Inherit Metab Dis       Date:  2008-11-21       Impact factor: 4.982

Review 5.  Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Authors:  Marine Jequier Gygax; Eliane Roulet-Perez; Kathleen Meagher-Villemure; Cornelis Jakobs; Gajja S Salomons; Olivier Boulat; Andrea Superti-Furga; Diana Ballhausen; Luisa Bonafé
Journal:  Eur J Pediatr       Date:  2008-11-13       Impact factor: 3.183

6.  Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.

Authors:  Aysegul Gunduz; Ayse Cigdem Aktuglu-Zeybek; Damla Tezer; Ece Oge Enver; Tanyel Zubarioglu; Ertugrul Kiykim; Meral E Kiziltan
Journal:  Neurol Sci       Date:  2021-08-24       Impact factor: 3.307

Review 7.  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

8.  A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.

Authors:  Hongfei Tai; Zaiqiang Zhang
Journal:  BMC Neurol       Date:  2015-07-25       Impact factor: 2.474

9.  Writer's cramp as a presentation of L-2-hydroxyglutaric aciduria.

Authors:  Pichet Termsarasab; Steven J Frucht
Journal:  J Clin Mov Disord       Date:  2014-12-11

10.  2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat.

Authors:  George J Nye; Alison C Major; Francois X Liebel
Journal:  JFMS Open Rep       Date:  2019-06-18
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