Related Experiment Videos
Canavan disease: findings in four new cases
H Michelakakis1, S Giouroukos, P Divry
1Institute of Child Health, Athens University, Ag Sophia Children's Hospital, Greece.
Journal of Inherited Metabolic Disease
|January 1, 1991
Summary
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Orphanet journal of rare diseases·2022
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Molecular genetics and metabolism reports·2021
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease.
Molecular genetics and metabolism reports·2016
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.
Balkan journal of medical genetics : BJMG·2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
Orphanet journal of rare diseases·2016
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.
European journal of neurology·2013
High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.
Journal of inherited metabolic disease·2026
Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.
Journal of inherited metabolic disease·2026
Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.
Journal of inherited metabolic disease·2026
Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.
Journal of inherited metabolic disease·2026
Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.
Journal of inherited metabolic disease·2026
Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.
Journal of inherited metabolic disease·2026