Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)

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Lab on a chip·2019

Development of genotyping method for functionally relevant variants of cytochromes P450 in cynomolgus macaques.

Journal of veterinary pharmacology and therapeutics·2017

The supercoiling state of DNA determines the handedness of both H3 and CENP-A nucleosomes.

Nanoscale·2017

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Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

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Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

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Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

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Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong

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Disorders of peroxisome biogenesis: complementation analysis shows genetic heterogeneity with strong