Journal of Inherited Metabolic Disease: Vol 30, No 6

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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 30, Issue 6

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Editorial

No justification for very high-dose enzyme therapy for patients with type III Gaucher disease

Review

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

Neurological implications of urea cycle disorders

Nutritional management of patients with urea cycle disorders

Rapid Communication

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome

Original Articles

Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria

Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

Depression in adults with Fabry disease: A common and under-diagnosed problem

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia

Short Report

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme

Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency

Osteoma of the calvaria in l-2-hydroxyglutaric aciduria

Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy

Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe

Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels

Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

Online Report

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

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