Journal of Inherited Metabolic Disease: Vol 4, No 1

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IssueVolume 66, Issue 5
September 2025

Journal of Inherited Metabolic Disease

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Journal of Inherited Metabolic Disease: Volume 4, Issue 1

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Articles

Homocystinuria: Studies on cystathionine β-synthase,S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts

Homocystinuria: The effect of pyridoxine supplementation on cultured skin fibroblasts

Genetic heterogeneity of membrane-bound β-glucosidase in Gaucher's disease

Two-dimensional polyacrylamide gel analysis of fibroblast polypeptides: Discussion of its Relevance for inherited diseases

Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency

Plasma amino acids in a patient with Wilson's disease presenting with an acute haemolytic anaemia

Acute hereditary tyrosinaemia type I: Clinical, biochemical and haematological studies in twins

Book reviews

The D. Noel Raine memorial fund

Clinical research centre symposium No. 2 Division of inherited metabolic diseases ‘Advances in the treatment of inborn errors of metabolism’ will be held at the medical research council's clinical research centre, Watford Road, Harrow, England,1st–4th September, 1981

Work in Progress

Pterin metabolism in normal subjects and hyperphenylalaninaemic patients

Antenatal diagnosis of propionic acidaemia by methylcitrate determination

Phenylalanine loading tests in genetic counselling: 5 Years experience with its premarital use

Two forms of biotin-responsive multiple carboxylase deficiency

Urocanic acid contents in histidinaemic infant and developing rat epidermis

Lactic acidosis due to pyruvate carboxylase deficiency

Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia

Hyperornithinaemia associated with gyrate atrophy of the choroid and retina:In vivo andIn vitro response to vitamin B6

Urinary organic acids in normal full-term newborns aged 1–7 days

Transaminative metabolism ofl-cysteine in rat tissues

Use of α-methylphenylalanine for studies of brain development in experimental phenylketonuria

Renal transport of aromatic acids in patients with phenylketonuria

Late onset type of propionic acidaemia: Case report and biochemical studies

Intracellular concentrations of phenylalanine, tyrosine and α-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals

Histoenzymological activities of gaucher cells

Prolidase deficiency with iminodipeptiduria: Biochemical investigations and first results of attempted therapy

Hypermethioninaemia and 3-Hydroxyisobutyric aciduria in an apparently healthy baby

Screening of high risk infants for metabolic disease in a metropolitan hospital

The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal Mucosa

Neonatal I-cell disease: Clinical and biochemical observations

Preliminary report on mellituria in phenylketonuric children: Modification in the excretion of glucose and pentoses

Pyroglutamic aciduria (5-Oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity

Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid

Glucose-6-phosphate dehydrogenase deficiency and mental retardation

Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria

Analysis of inborn errors of metabolism and other genetic defects in human fibroblasts using two-dimensional polypeptide mapping

Towards enzyme therapy using carrier erythrocytes

In Vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

Multiple sulphatase deficiency with early onset

Disturbances of amino acid transport in rats with experimental hyperphenylalaninaemia

Methylmalonic aciduria in a black female child with congenital short femur on the right side

Metabolite profiling of human muscle extracts by isotachophoresis

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

Substrate inhibition of HGPRT: Protein structural and kinetic studies of a human variant

Four sanfilippo C patients in a family pedigree

Some inborn errors of metabolism at a local institute for mentally retarded patients

Fabry's disease: Detection of heterozygotes using blastoid lymphocytes stimulated by phytohaemagglutinin

A new enzymatic method for pyridoxal-5-phosphate determination

Properties of human alkaline phosphatase and prenatal diagnosis of hypophosphatasia

Synthesis of conjugates for production of an antibody toortho-hydroxyphenylacetic acid

Enzymatic diagnosis of congenital lethal hypophosphatasia in tissues, plasma and diploid skin fibroblasts

Neonatal lactic acidosis with pyruvate carboxylase inactivity

Metabolic abnormalities in a patient with muscular carnitine deficiency

Effect of saccharopine on urea cycle metabolism

Corrective factor of bloom syndrome: Further characteristics

Biochemical study of four cases of propionic acidaemia: GC/MS study of urinary metabolites

Glycopeptidosis: A new inherited disorder of glycoconjugate metabolism affecting the central nervous system

Abnormal biochemistry and morphology of erythrocytes in a case of transcobalamin II deficiency during treatment

Subcellular distribution of lysosomal hydrolases in mucolipidosis III and a mucolipidosis III variant

A case of myoglycogen storage disease with reduced acid α-glucosidase activity in the fibroblasts but not in the muscle

Abnormal cobalamin metabolism in a case of juvenile pernicious anaemia with neurological symptoms

Lysinuric protein intolerance: Possible genetic heterogeneity?

I-cell disease phenotypein vitro: Experiments with cell fusion and co-cultivation

A human cell strain bank: Interest for the prenatal diagnosis of metabolic diseases

A problem of control of treatment in a boy with salt-losing congenital adrenal hyperplasia (21-hydroxylation defect)

Studies on glycoprotein metabolism in different types of sphingolipidosis

Chemical compositions of acid mucopolysaccharides in urine and tissues of patients with multiple sulphatase deficiency

Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency

Inheritance of transcobalamin II (TC II) in two families with TC II deficiency and related immunodeficiency

Partial HGPRT-deficiency in a patient with the Lesch-Nyhan syndrome: Evidence for a structural mutation affecting the PRPP binding site

Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy

Hyperornithinaemia associated with gyrate atrophy of the choroid and retina:In vivo andIn vitro response to vitamin B₆