The role of collagen in the pathogenesis of idiopathic clubfoot. Biochemical and electron microscopic correlations.
Explore the source record for details and available documents.
Amino Acids↗
Biomedical subjects
H Zellweger
Publications and source records attributed to H Zellweger.
Fetal face syndrome with acral dysostosis.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Early onset of myotonic dystrophy in infants.
Explore the source record for details and available documents.
Adult↗
Biochemical abnormalities of muscle ribosomes during attacks of hyperkalemic periodic paralysis.
Explore the source record for details and available documents.
Adolescent↗
Is routine prenatal karyotyping indicated in pregnancies of very young women?
Explore the source record for details and available documents.
Down Syndrome↗
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.
Explore the source record for details and available documents.
Autopsy↗
A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy.
Five carriers of the gene of Duchenne type muscular dystrophy are described. Muscle histology was minimally to moderately abnormal in two and normal in three. Electron microscopy was abnormal in all five and showed massive aggregates of subsarcolemmal mitochondria, paracrystalline mitochondria, Z line streaming, central nuclei, dilated sacs of sarcoplasmic reticulum, focal loss of myofilaments, and lipid lysosome bodies. The electron microscopic literature on the carrier state is reviewed and analysed. The possible role of electron microscopy in detection of carriers is discussed.
Adult↗
Comparison of ribosomal protein synthesis in Becker and Duchenne muscular dystrophies.
Explore the source record for details and available documents.
Adult↗
Identification of carriers of Duchenne muscular dystrophy by muscle protein synthesis.
Explore the source record for details and available documents.
Amino Acids↗
Myotonic dystrophy and its differential diagnosis.
Explore the source record for details and available documents.
Adult↗
[The floppy infant syndrome].
Explore the source record for details and available documents.
Age Factors↗
[Muscular dystrophies].
Explore the source record for details and available documents.
Aspartate Aminotransferases↗
[Heterogeneity of muscular dystrophy].
Explore the source record for details and available documents.
Cytogenetics↗
Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature.
Explore the source record for details and available documents.
Adult↗
Glycogenosis. IV. A new cause of infantile hypotonia.
Explore the source record for details and available documents.
Autopsy↗
The diagnostic significance of serum enzymes and electrocardiogram in various muscular dystrophies.
Explore the source record for details and available documents.
Aspartate Aminotransferases↗
A new genetic variant of the spinal muscular atrophies in infancy.
Explore the source record for details and available documents.
Alleles↗
Abnormal protein synthesis in facioscapulohumeral muscular dystrophy.
Explore the source record for details and available documents.
Adolescent↗