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Article
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal tre...
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Article
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyop...
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Article
Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy
Patients with MPS II often present with limitations to functional mobility. With the advent of enzyme replacement therapy (ERT), robust assessment tools are important to assess response to treatment. The aim o...
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Article
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hy...
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Article
An Atlas of Common Metabolic and Genetic Diseases. Mohammed A. Al-Elessa, Nadia A. Sakati, Pinar T. Ozand
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Manual of Metabolic Diseases. Mohammed A. Al-Elessa and Pinar T. Ozand
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Article
Galactosaemia: relationship of IQ to biochemical control and genotype
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Article
Immune function in prolidase deficiency