Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of …
Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is
a multisystem inborn error of metabolism. Objectives To better characterise the natural …
a multisystem inborn error of metabolism. Objectives To better characterise the natural …
[HTML][HTML] Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Purpose Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated
with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic …
with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic …
[CITATION][C] L'HOMOCYSTINURIE PAR DEFICIT EN CYSTATHIONINE BETA SYNTHETASE: A PROPOS DE 17 CAS
RF Buissonnière - 1987 - Éditeur inconnu