Literature DB >> 21384162

Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.

M Ali Pervaiz, Marc C Patterson, Eduard A Struys, Gajja S Salomons, Cornelis Jakobs, Devin Oglesbee, Salman Kirmani.   

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Year:  2011        PMID： 21384162     DOI： 10.1007/s00415-011-5977-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

Authors:  R Barone; F Nigro; F Triulzi; S Musumeci; A Fiumara; L Pavone
Journal:  Neuropediatrics       Date:  1999-10       Impact factor: 1.947

2.  Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Authors:  Vinod K Misra; Eduard A Struys; William O'brien; Gajja S Salomons; Thomas Glover; Cornelis Jakobs; Jeffrey W Innis
Journal:  Mol Genet Metab       Date:  2005-08-02       Impact factor: 4.797

3.  Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

Authors:  Xiaolian Fan; Huiwen Zhang; Sunqu Zhang; Richard D Bagshaw; Michael B Tropak; John W Callahan; Don J Mahuran
Journal:  Am J Hum Genet       Date:  2006-08-23       Impact factor: 11.025

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

5.  Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Authors:  G J G Ruijter; M J Valstar; J M van de Kamp; R M van der Helm; S Durand; O P van Diggelen; R A Wevers; B J Poorthuis; A V Pshezhetsky; F A Wijburg
Journal:  Mol Genet Metab       Date:  2007-11-19       Impact factor: 4.797

6.  Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride.

Authors:  Eduard A Struys; Erwin E W Jansen; Nanda M Verhoeven; Cornelis Jakobs
Journal:  Clin Chem       Date:  2004-05-27       Impact factor: 8.327

7.  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
  7 in total
  3 in total

Review 1.  Clinical neurogenetics: recent advances.

Authors:  Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2012-07-21       Impact factor: 4.849

Review 2.  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.  D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Authors:  Ana Pop; Eduard A Struys; Erwin E W Jansen; Matilde R Fernandez; Warsha A Kanhai; Silvy J M van Dooren; Senay Ozturk; Justin van Oostendorp; Pascal Lennertz; Martijn Kranendijk; Marjo S van der Knaap; K Michael Gibson; Emile van Schaftingen; Gajja S Salomons
Journal:  Hum Mutat       Date:  2019-04-13       Impact factor: 4.878
  3 in total

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