Literature DB >> 10883451

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis.

I S Talkhani1, J Saklatvala, J Dwyer.   

Abstract

D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis.

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Year:  2000        PMID： 10883451     DOI： 10.1007/s002560050611

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  11 in total

Review 1.  Inborn errors of metabolism for the diagnostic radiologist.

Authors:  Chris J Hendriksz
Journal:  Pediatr Radiol       Date:  2008-12-13

2.  Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2012-09-30       Impact factor: 3.134

3.  Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Authors:  Hye Jung Choo; Tae-Joon Cho; Junghan Song; George E Tiller; Sun Hee Lee; Gunbo Park; In Sook Lee; Ralph Lachman; Andrea Superti-Furga; Ok-Hwa Kim
Journal:  Skeletal Radiol       Date:  2012-05-26       Impact factor: 2.199

Review 4.  D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.

Authors:  Eduard A Struys
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 5.  Enchondromatosis: insights on the different subtypes.

Authors:  Twinkal C Pansuriya; Herman M Kroon; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2010-06-26

6.  Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.

Authors:  G Haliloglu; C M Temucin; K K Oguz; A Celiker; T Coskun; J O Sass; J Fischer; M Topcu
Journal:  J Inherit Metab Dis       Date:  2009-01-26       Impact factor: 4.982

7.  Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.

Authors:  Patra Yeetong; Teerasak Phewplung; Wuttichart Kamolvisit; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Skeletal Radiol       Date:  2018-05-10       Impact factor: 2.199

Review 8.  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

9.  Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.

Authors:  D Thirumal Kumar; L Jerushah Emerald; C George Priya Doss; P Sneha; R Siva; W Charles Emmanuel Jebaraj; Hatem Zayed
Journal:  Metab Brain Dis       Date:  2018-07-09       Impact factor: 3.655

10.  The oncometabolite D-2-hydroxyglutarate induced by mutant IDH1 or -2 blocks osteoblast differentiation in vitro and in vivo.

Authors:  Johnny Suijker; Hans J Baelde; Helene Roelofs; Anne-Marie Cleton-Jansen; Judith V M G Bovée
Journal:  Oncotarget       Date:  2015-06-20
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