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JIMD Reports|December 26, 2013
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) ResponsivenessGladys Ho, Ian Alexander, Kaustuv Bhattacharya, et al.JIMD Reports|December 18, 2013
Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type IIIDivair Doneda, Filippo P Vairo, André L Lopes, et al.JIMD Reports|March 24, 2016
Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry DiseaseAndrew Talbot, Gary Hammerschlag, Jeremy Goldin, et al.JIMD Reports|April 13, 2016
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase DeficiencyCarlos R Ferreira, Kristina Cusmano-OzogJIMD Reports|July 30, 2017
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening CentersB Merinero, P Alcaide, E Martín-Hernández, et al.JIMD Reports|November 1, 2017
Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in AdulthoodBimal Patel, Surekha Pendyal, Priya S Kishnani, et al.JIMD Reports|August 26, 2017
Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic ReviewEmma Medford, Dougal Julian Hare, Anja WittkowskiJIMD Reports|October 7, 2017
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese BrothersI Castro-Ferreira, Rute Carmo, Sérgio Estrela Silva, et al.JIMD Reports|November 18, 2015
Multiple, Successful Pregnancies in Pompe DiseaseUrsula Plöckinger, Nikolaus Tiling, Lenka Bosanska, et al.JIMD Reports|December 20, 2015
The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New AnalysisP A Portnoi, A MacDonaldPageof 127