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JIMD reports

Showing results (491-500 of 1,250) with videos related to

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JIMD Reports|September 13, 2014
Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotypeDong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, et al.
JIMD Reports|July 21, 2014
Perioperative medullary complications in spinal and extra-spinal surgery in mucopolysaccharidosis: a case series of three patientsN Pauchard, C Garin, J L Jouve, et al.
JIMD Reports|July 12, 2014
Birth Prevalence of Fatty Acid β-Oxidation Disorders in IberiaHugo Rocha, Daisy Castiñeiras, Carmen Delgado, et al.
JIMD Reports|July 12, 2014
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish NeonatesSitke Aygen, Ulrich Dürr, Peter Hegele, et al.
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-Ozog
JIMD 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.
Pageof 125

Showing results (491-500 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|September 13, 2014
Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotypeDong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, et al.
JIMD Reports|July 21, 2014
Perioperative medullary complications in spinal and extra-spinal surgery in mucopolysaccharidosis: a case series of three patientsN Pauchard, C Garin, J L Jouve, et al.
JIMD Reports|July 12, 2014
Birth Prevalence of Fatty Acid β-Oxidation Disorders in IberiaHugo Rocha, Daisy Castiñeiras, Carmen Delgado, et al.
JIMD Reports|July 12, 2014
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish NeonatesSitke Aygen, Ulrich Dürr, Peter Hegele, et al.
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-Ozog
JIMD 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.
Pageof 125