Literature DB >> 35359529

Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.

Rangan Srinivasaraghavan1, Suvasini Sharma2, Lisa Kratz3, Prateek Malik4, Sangeetha Yoganathan5, Sumita Danda6, Samuel Philip Oommen1.   

Abstract

Entities:  

Year:  2021        PMID： 35359529      PMCID： PMC8965948          DOI： 10.4103/aian.AIAN_231_20

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


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  9 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 in a patient with a severe clinical phenotype and unusual MRI findings.

Authors:  M Wajne; C R Vargas; C Funayama; A Fernandez; M L C Elias; S I Goodman; C Jakobs; M S van der Knaap
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

4.  [D-2-hydroxyglutaric aciduria. Report of two cases].

Authors:  Antionieta Mahfoud; Carmen Luisa Domínguez; Mohamed Rashed; Marinus Durán; Tania Rodríguez; Daniel Rodríguez; Vanesa Landa
Journal:  Invest Clin       Date:  2009-09       Impact factor: 0.683

5.  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

Review 6.  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

7.  Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.

Authors:  Benjamin Nota; Eline M Hamilton; Daoud Sie; Senay Ozturk; Silvy J M van Dooren; Matilde R Fernandez Ojeda; Cornelis Jakobs; Ernst Christensen; Edwin P Kirk; Jolanta Sykut-Cegielska; Allan M Lund; Marjo S van der Knaap; Gajja S Salomons
Journal:  J Med Genet       Date:  2013-09-18       Impact factor: 5.941

8.  IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

Authors:  Martijn Kranendijk; Eduard A Struys; Emile van Schaftingen; K Michael Gibson; Warsha A Kanhai; Marjo S van der Knaap; Jeanne Amiel; Neil R Buist; Anibh M Das; Johannis B de Klerk; Annette S Feigenbaum; Dorothy K Grange; Floris C Hofstede; Elisabeth Holme; Edwin P Kirk; Stanley H Korman; Eva Morava; Andrew Morris; Jan Smeitink; Rám N Sukhai; Hilary Vallance; Cornelis Jakobs; Gajja S Salomons
Journal:  Science       Date:  2010-09-16       Impact factor: 63.714

9.  D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene.

Authors:  E Phillips; F Sasarman; D S Sinasac; W Al-Hertani
Journal:  Mol Genet Metab Rep       Date:  2019-06-13
  9 in total

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