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European Journal of Human Genetics : EJHG|September 14, 1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-aM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2015
Two new cases of serine deficiency disorders treated with l-serineA Brassier, V Valayannopoulos, N Bahi-Buisson, et al.
Journal of Inherited Metabolic Disease|April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaP Briones, M A Vilaseca, E Schollen, et al.
Pediatric Research|August 29, 2000
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotypeB W Weston, J L Lin, J Muenzer, et al.
American Journal of Human Genetics|October 3, 1998
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and IcM Veiga-da-Cunha, I Gerin, Y T Chen, et al.
Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.
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