Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis-Reference-Cited by-同舟云学术

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Published:2013-10-06 Issue:12 Volume:136 Page:3618-3624
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Harlalka Gaurav V.,Lehman Anna,Chioza Barry,Baple Emma L.,Maroofian Reza,Cross Harold,Sreekantan-Nair Ajith,Priestman David A.,Al-Turki Saeed,McEntagart Meriel E.,Proukakis Christos,Royle Louise,Kozak Radoslaw P.,Bastaki Laila,Patton Michael,Wagner Karin,Coblentz Roselyn,Price Joy,Mezei Michelle,Schlade-Bartusiak Kamilla,Platt Frances M.,Hurles Matthew E.,Crosby Andrew H.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/136/12/3618/13794998/awt270.pdf

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5. Per-O-methylation of neutral carbohydrates directly from aqueous samples for gas chromatography and mass spectrometry analysis;Ciucanu;Anal Chim Acta,2007

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