Related Experiment Videos
Deficiency of arylsulfatase A in juvenile metachromatic leucodystrophy: fibroblast studies
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Journal of medical genetics·2009
Aminoacylase I deficiency: a novel inborn error of metabolism.
Biochemical and biophysical research communications·2005
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.
American journal of medical genetics. Part A·2004
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
American journal of medical genetics. Part A·2003
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
American journal of human genetics·2001
Reaction-based cryo-EM resolves the continuous conformational spectrum of CTP synthase catalysis.
Proceedings of the National Academy of Sciences of the United States of America·2026
Fixed drug eruption to propofol: Case series and clinical implications.
Allergologie select·2026
An Unusual Presentation of Right fifth Flexor Digitorum Profundus Tendon Zone 3 Rupture Following Jersey Finger Mechanism Injury.
Journal of orthopaedic case reports·2026
Human iPSC-derived 2D cortical neurons and 3D cortical organoids show fetal brain proteomic similarity and distinct phosphoproteomic profiles.
Frontiers in bioengineering and biotechnology·2026