Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Journal of Neurology

• Publication date

  1993-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00838160PMID 8326330
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

  1991cited by this paper
• Molecular basis ofgalactosemia: Mutations andpolymorphisms in thegeneencoding humangalactose-1-phosphate uridylyltransfer ase

  1991cited by this paper
• Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

  1991cited by this paper
• Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

  1990cited by this paper
• Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

  1988cited by this paper
• Analysis of sorbitol, galactitol, and myo-inositol in lens and sciatic nerve by high-performance liquid chromatography.

  1988cited by this paper
• Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets

  1987cited by this paper
• Muscle G6PD deficiency.

  1987cited by this paper
• Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy

  1986cited by this paper
• Red Cell Metabolism. A Manual of Biochemical Methods. 3rd Edition

  1985cited by this paper
• Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme

  1984cited by this paper
• Determination of sorbitol and galactitol at the nanogram level in biological samples by high-performance liquid chromatography.

  1984cited by this paper
• Muscle phosphoglycerate mutase deficiency.

  1982cited by this paper
• Muscle phosphoglycerate rnutase deficiency

  1982cited by this paper
• Developmental Aspects of Galactosemia from Infancy to Childhood

  1980cited by this paper
• Galactose metabolism, hereditary defects and their clinical significance

  1980cited by this paper
• Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen→9p22

  1980cited by this paper
• Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

  1980cited by this paper
• The Activity of Galactose-1-phosphate Uridyltransferase and Galactokinase in Human Fetal Organs

  1977cited by this paper
• Galactose and glucose metabolism in galactokinase deficient, galactose‐1‐P‐uridyl transferase deficient and normal human fibroblasts

  1975cited by this paper
• Galactose biogenesis and disposal in galactosemics

  1974cited by this paper
• Detection of Inborn Errors of Metabolism: Galactosemia

  1973cited by this paper
• Galactose Utilization in Galactosemia

  1972cited by this paper
• Red cell metabolism

  1971cited by this paper
• A fluorometric method for the assay of galactose-1-phosphate in red blood cells.

  1971cited by this paper
• Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31]

  1969cited by this paper
• Galactose toxicity in the chick: Tissue accumulation of galactose and galactitol

  1969cited by this paper
• UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.

  1967cited by this paper
• Alternate metabolic pathway in galactosemia. Observations in patient with galactosemia.

  1966cited by this paper
• Galactitol in the tissues of a galactosemic child.

  1966cited by this paper
• Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

  1966cited by this paper
• Aldose reductase activity in the lens and other tissues

  1966cited by this paper
• ISOLATION AND PROPERTIES OF LENS ALDOSE REDUCTASE.

  1965cited by this paper
• The distribution of galactitol in tissues of rats fed galactose.

  1965cited by this paper
• THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE BRAINS OF GALACTOSEMIA PATIENTS.

  1965cited by this paper
• HYDRATION OF THE LENS DURING THE DEVELOPMENT OF GALACTOSE CATARACT.

  1964cited by this paper
• THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE URINE OF PATIENTS WITH GALACTOSEMIA.

  1964cited by this paper
• Observations on cataract formation in the newborn offspring of rats fed a high-galactose diet.

  1963cited by this paper
• The Value of Galactose Phosphate Determinations in the treatment of Galactosaemia

  1960cited by this paper
• Evidence for accessory pathway of galactose metabolism in mammalian liver.

  1957cited by this paper
• A Clinical and Biochemical Study of Galactosaemia

  1956cited by this paper
• [Chronic galactosemia].

  1953cited by this paper
• Amino-aciduria in Galactosaemia

  1952cited by this paper
• Protein measurement with the Folin phenol reagent.

  1951cited by this paper
• CHRONIC GALACTEMIA: REPORT OF CASE WITH STUDIES ON CARBOHYDRATES

  1935cited by this paper

• Galactose toxicity in animals

  2009cites this paper
• Cerebellar gait ataxia following neuroleptic malignant syndrome

  2004cites this paper
• Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle

  2004cites this paper
• Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose‐1‐phosphate uridyltransferase (GALT) deficiency

  1996cites this paper