Related Experiment Videos
Sanfilippo disease (mucopolysaccharidosis type III) presenting as transient renal tubular dysfunction
U Ramaswami1, W Van 't Hoff, P Clayton
1Institute of Child Health, London, UK.
Journal of Inherited Metabolic Disease
|January 1, 1996
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Molecular genetics and metabolism·2019
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
Molecular genetics and metabolism reports·2017
GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults.
European journal of endocrinology·2015
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Journal of inherited metabolic disease·2026
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal of inherited metabolic disease·2026
Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.
Journal of inherited metabolic disease·2026
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.
Journal of inherited metabolic disease·2026
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.
Journal of inherited metabolic disease·2026
Acute ileo-ileal intussusception following a Swenson procedure in a resource-limited setting: a case report.
International journal of surgery case reports·2026
A rare case of anterior inferior iliac spine osteochondroma causing external snapping hip syndrome: a case report.
International journal of surgery case reports·2026
A Comprehensive Theoretical Characterization on All-Silicon Rings, Cyclo[n]Silicons (n = 8, 10, 12, 14): Structure, Bonding, and Aromaticity.
The journal of physical chemistry. A·2026
Partially insoluble reaction components as heterogeneous supports for nanoparticles generated in situ during catalysis.
Chemical communications (Cambridge, England)·2026
Hydrogen Release From Silicon─Hydrogen Systems: From Surface Chemistry to Higher-Coordinate Molecular Mechanisms.
Chemistry (Weinheim an der Bergstrasse, Germany)·2026