Source: Merinero, B, Pascual Pascual, S I, Perez-Cerda, C, Gangioti, J, Castro, M, Carcia, M J, Pascua Castroviejo, I, Vianey-Saban, C, Andresen, B S, Gregersen, N & Ugarte, M 1999, '

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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

Authors : David S. Rosenblatt; Adrian C. Sewell; I. Mylonas

Subjects: Aging; medicine.medical_specialty; Pediatrics

Source: Journal of Inherited Metabolic Disease. 22:756-758

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Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening

Authors : Inga Harting; Peter Freisinger; Stefan Kölker

Subjects: Adult; Male; medicine.medical_specialty

Source: Journal of Inherited Metabolic Disease. 44:1343-1352

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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio

Authors : Femke S. Stet; Frédéric M. Vaz; Johanne H. Klinkspoor ...

Subjects: Adult; Male; Functional assay

Source: Journal of inherited metabolic disease, 45(1), 29-37. Springer Netherlands

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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

Authors : Sarah C. Grünert; Ute Spiekerkoetter; Martin Lindner

Subjects: Adult; Male; medicine.medical_specialty

Source: Journal of Inherited Metabolic Disease. 44:893-902

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Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Authors : Eissa Faqeih; Jennifer Friedman; Hudson H. Freeze

Subjects: Adult; Male; congenital, hereditary, and neonatal diseases and abnormalities

Source: J Inherit Metab Dis

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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection

Authors : Yukiko Mogami; Katsunori Fujii; Nataliya Povalko

Subjects: Adult; Male; medicine.medical_specialty

Source: Journal of Inherited Metabolic Disease

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Effects of triheptanoin ( UX007 ) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label , long‐term extension study

Authors : Jerry Vockley; Elaine Murphy; Kimberly Chapman

Subjects: Adult; Male; medicine.medical_specialty

Source: Journal of Inherited Metabolic Disease

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Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary

Authors : J. Meyer; Julie Beitz; Sojeong Yi

Subjects: Adult; Male; Calorie

Source: Journal of Inherited Metabolic Disease. 44:515-517

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Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Authors : Thomas Dierks; Laura Adang; Thiago Oliveira Silva

Subjects: Male; leukodystrophy; medicine.medical_specialty

Source: Journal of Inherited Metabolic Disease

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