Journal of Inherited Metabolic Disease: Vol 20, No 5

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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 20, Issue 5

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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

Mucolipidosis type IV: Abnormal transport of lipids to lysosomes

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

Peroxisomal localization of α-oxidation in human liver

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

Heterogeneous presentation in Leigh syndrome

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine

Biotinidase deficiency with neurological features resembling multiple sclerosis

Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency

Carnitine-acylcarnitine translocase deficiency - a mild phenotype

Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine

Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy

Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes

Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

Hyperphagia in patients with α-mannosidosis type II

Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample

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Articles

Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

Mucolipidosis type IV: Abnormal transport of lipids to lysosomes

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

Peroxisomal localization of α-oxidation in human liver

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

Heterogeneous presentation in Leigh syndrome

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine

Biotinidase deficiency with neurological features resembling multiple sclerosis

Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency

Carnitine-acylcarnitine translocase deficiency - a mild phenotype

Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine

Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy

Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency

Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes

Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

Hyperphagia in patients with α-mannosidosis type II

Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample

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