Related Experiment Videos

First-trimester prenatal diagnosis of Canavan disease

M O Rolland¹, P Divry, G Mandon

¹Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

Journal of Inherited Metabolic Disease

|January 1, 1993

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal of neurology·2025

Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.

Acta neurologica Belgica·2022

Primary headache in childhood associated with psychiatric disturbances: an update.

European review for medical and pharmacological sciences·2020

Hyperkinetic movement disorders in congenital disorders of glycosylation.

European journal of neurology·2019

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.

Molecular genetics and metabolism reports·2017

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Journal of neurology·2014

See all related articles