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Palliative care for children and adults with inherited metabolic disease in Europe : an underutilised service for supportive treatment and care
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- Journal Article
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Mapping challenges in the accessibility of treatment products for urea cycle disorders : a survey of European healthcare professionals
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- Journal Article
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Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases : results of a European reference network survey
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Lipid metabolism alterations in hereditary inorganic pyrophosphate deficiency syndromes : a narrative review of insights and controversies
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ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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Expanded phenotyping by microscopic imaging
(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69 -
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Novel medicines can be cheaper
(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.254-254 -
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency
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A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility
(2021) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of inherited metabolic disease 44(S1). p.139-140 -
- Journal Article
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Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa