Galactokinase deficiency in twins: clinical and biochemical studies.
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Carbohydrate Metabolism, Inborn Errors↗
Biomedical subjects
G N Donnell
Publications and source records attributed to G N Donnell.
46, Del (9) (22:), a new deletion syndrome.
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Abnormalities, Multiple↗
C-banding of human chromosomes produced by D.N.ase.
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Cell Division↗
Urinary galactitol in galactosemic patients.
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Diet↗
Pitfalls in the diagnosis of galactosemia.
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Clinical Enzyme Tests↗
A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.
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Adult↗
Partial trisomy of the long arm of chromosome No. 7.
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Abnormalities, Multiple↗
A short, retarded child with a deletion of the short arm of chromosome 18 (18p-).
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Age Determination by Skeleton↗
Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.
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Abnormalities, Multiple↗
Galactokinase-deficiency cataracts in identical twins.
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Cataract↗
Intellectual and personality development in children with galactosemia.
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Adolescent↗
Identification of the G chromosomes in Down's syndrome by quinacrine fluorescence microscopy.
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Chromosome Aberrations↗
Propionic acidemia in patients with ketotic hyperglycinemia.
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Acidosis↗
Childbearing by a galactosemic woman.
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Alcohols↗
Quinacrine fluoromicroscopy in the identification of human mitotic chromosomes.
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Chromosomes↗
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.
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Adolescent↗
Total parathyroidectomy in the treatment of renal osteodystrophy.
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Adolescent↗
Reifenstein's syndrome: hereditary familial hypogonadism with hypospadias and gynecomastia.
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Adolescent↗