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Publications by Manuel Schiff

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

New England Journal of Medicine
Medicine
2016English

Therapies in Inborn Errors of Oxidative Metabolism

Trends in Endocrinology and Metabolism
EndocrinologyMetabolismDiabetes
2012English

Early Prediction of Phenotypic Severity in Citrullinemia Type 1

Annals of Clinical and Translational Neurology
NeuroscienceNeurology
2019English

Doubling Diet Fat on Sugar Ratio in Children With Mitochondrial OXPHOS Disorders: Effects of a Randomized Trial on Resting Energy Expenditure, Diet Induced Thermogenesis and Body Composition

Clinical Nutrition
NutritionCritical CareDieteticsIntensive Care Medicine
2016English

International Clinical Guidelines for the Management of Phosphomannomutase 2-Congenital Disorders of Glycosylation: Diagnosis, Treatment and Follow Up

Journal of Inherited Metabolic Disease
Genetics
2019English

Betaine Anhydrous in Homocystinuria: Results From the RoCH Registry

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2019English

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient With Twinkle Variants

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2016English

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