Literature DB >> 32626804

A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.

Heli Shah1, Mitesh Chandarana2, Jayesh Sheth3, Sudhir Shah4.   

Abstract

Entities:  

Keywords:  L‐2‐ hydroxyglutaric acid dehydrogenase (L2HGDH); L‐2‐ hydroxyglutaric aciduria (L2HGA); flavin adenine dinucleotide (FAD)

Year:  2020        PMID： 32626804      PMCID： PMC7328415          DOI： 10.1002/mdc3.12967

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  18 in total

1.  Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Authors:  I Moroni; L D'Incerti; L Farina; M Rimoldi; G Uziel
Journal:  Neurol Sci       Date:  2000-04       Impact factor: 3.307

2.  The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.

Authors:  R Rzem; E Van Schaftingen; M Veiga-da-Cunha
Journal:  Biochimie       Date:  2005-06-23       Impact factor: 4.079

3.  L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.

Authors:  J Fujitake; Y Ishikawa; H Fujii; K Nishimura; K Hayakawa; F Inoue; N Terada; M Okochi; Y Tatsuoka
Journal:  J Neurol       Date:  1999-05       Impact factor: 4.849

4.  L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.

Authors:  C Marcel; M Mallaret; O Lagha-Boukbiza; S Kremer; A Echaniz-Laguna; C Tranchant
Journal:  Rev Neurol (Paris)       Date:  2011-10-24       Impact factor: 2.607

5.  Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria.

Authors:  Kutluhan Yilmaz
Journal:  Eur J Paediatr Neurol       Date:  2008-03-17       Impact factor: 3.140

6.  L-carnitine treatment in glutaric aciduria type I.

Authors:  D W Seccombe; L James; F Booth
Journal:  Neurology       Date:  1986-02       Impact factor: 9.910

7.  Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.

Authors:  N J Brandt; N Gregersen; E Christensen; I H Grøn; K Rasmussen
Journal:  J Pediatr       Date:  1979-04       Impact factor: 4.406

8.  L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

Authors:  M Duran; J P Kamerling; H D Bakker; A H van Gennip; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

9.  Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain.

Authors:  Alexandra Latini; Karina Scussiato; Rafael Borba Rosa; Guilhian Leipnitz; Susana Llesuy; Adriane Belló-Klein; Carlos Severo Dutra-Filho; Moacir Wajner
Journal:  J Neurosci Res       Date:  2003-10-01       Impact factor: 4.164

10.  Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria.

Authors:  Saminderjit Kular
Journal:  Radiol Case Rep       Date:  2019-11-09
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  2 in total

1.  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

2.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438
  2 in total

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