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JIMD reports

Showing results (621-630 of 1,250) with videos related to

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JIMD Reports|November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility studyG J G Ruijter, D A Goudriaan, A M Boer, et al.
JIMD Reports|March 23, 2016
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyAlexander Laemmle, Tamar Stricker, Johannes Häberle
JIMD Reports|May 22, 2016
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening ProgrammeE A Kemper, A Boelen, A M Bosch, et al.
JIMD Reports|June 14, 2016
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative AnalysisRachel M Roberts, Tamara Muller, Annabel Sweeney, et al.
JIMD Reports|September 24, 2017
The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with PhenylketonuriaBozena Didycz, Magdalena Nitecka, Miroslaw Bik-Multanowski
JIMD Reports|September 8, 2017
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical SuspicionAndrew White, Michel C Tchan
JIMD Reports|April 15, 2016
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal DiabetesNatascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, et al.
JIMD Reports|April 15, 2016
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper SpotsGabriella Jacomelli, Vanna Micheli, Giulia Bernardini, et al.
JIMD Reports|May 1, 2016
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein LevelsLance H Rodan, Gerard T Berry
JIMD Reports|March 18, 2016
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their ParentsNina A Zeltner, Markus A Landolt, Matthias R Baumgartner, et al.
Pageof 125

Showing results (621-630 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility studyG J G Ruijter, D A Goudriaan, A M Boer, et al.
JIMD Reports|March 23, 2016
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyAlexander Laemmle, Tamar Stricker, Johannes Häberle
JIMD Reports|May 22, 2016
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening ProgrammeE A Kemper, A Boelen, A M Bosch, et al.
JIMD Reports|June 14, 2016
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative AnalysisRachel M Roberts, Tamara Muller, Annabel Sweeney, et al.
JIMD Reports|September 24, 2017
The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with PhenylketonuriaBozena Didycz, Magdalena Nitecka, Miroslaw Bik-Multanowski
JIMD Reports|September 8, 2017
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical SuspicionAndrew White, Michel C Tchan
JIMD Reports|April 15, 2016
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal DiabetesNatascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, et al.
JIMD Reports|April 15, 2016
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper SpotsGabriella Jacomelli, Vanna Micheli, Giulia Bernardini, et al.
JIMD Reports|May 1, 2016
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein LevelsLance H Rodan, Gerard T Berry
JIMD Reports|March 18, 2016
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their ParentsNina A Zeltner, Markus A Landolt, Matthias R Baumgartner, et al.
Pageof 125