Related Experiment Videos
Molecular analysis in 23 Hunter disease families
W Lissens1, S Seneca, I Liebaers
1Centre for Medical Genetics, University Hospital of the Dutch-speaking Brussels Free University (Vrije Universiteit Brussel), Belgium.
Journal of Inherited Metabolic Disease
|July 1, 1997
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Primary ovarian insufficiency in RMND1 mitochondrial disease.
Mitochondrion·2022
Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.
Journal of human genetics·2020
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.
Human reproduction open·2019
Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.
Human reproduction (Oxford, England)·2019
Expanding the clinical spectrum of biallelic ZNF335 variants.
Clinical genetics·2018
Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.
Journal of inherited metabolic disease·2026
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.
Journal of inherited metabolic disease·2026
Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.
Journal of inherited metabolic disease·2026
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
Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.
Pediatrics international : official journal of the Japan Pediatric Society·2026
Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.
bioRxiv : the preprint server for biology·2026
Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.
bioRxiv : the preprint server for biology·2026
Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.
Genomics, proteomics & bioinformatics·2026
Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026