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JIMD reports

Showing results (531-540 of 1,250) with videos related to

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JIMD Reports|July 8, 2018
Psychosocial Functioning in Parents of MPS III PatientsThirsa Conijn, Stephanie C M Nijmeijer, Hedy A van Oers, et al.
JIMD Reports|August 18, 2018
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating PregnancyChristoffer V Madsen, Erik Ilsø Christensen, Rikke Nielsen, et al.
JIMD Reports|September 7, 2018
Screening for Niemann-Pick Type C Disease in a Memory Clinic CohortAndreas Traschütz, Michael Thomas Heneka
JIMD Reports|September 14, 2016
Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare DiseasesChristopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, et al.
JIMD Reports|June 21, 2017
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn ScreeningR S Carling, D Burden, I Hutton, et al.
JIMD Reports|July 13, 2017
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested PathomechanismsMarcel du Moulin, Bastian Thies, Martin Blohm, et al.
JIMD Reports|April 15, 2018
Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the LiteratureJosefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, et al.
JIMD Reports|June 21, 2018
Sialuria: Ninth Patient Described Has a Novel Mutation in GNENoelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, et al.
JIMD Reports|February 15, 2015
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisE J Bhoj, M Li, R Ahrens-Nicklas, et al.
JIMD Reports|February 15, 2015
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot StudyMary Ellen Lynch, Nancy L Potter, Claire D Coles, et al.
Pageof 125

Showing results (531-540 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|July 8, 2018
Psychosocial Functioning in Parents of MPS III PatientsThirsa Conijn, Stephanie C M Nijmeijer, Hedy A van Oers, et al.
JIMD Reports|August 18, 2018
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating PregnancyChristoffer V Madsen, Erik Ilsø Christensen, Rikke Nielsen, et al.
JIMD Reports|September 7, 2018
Screening for Niemann-Pick Type C Disease in a Memory Clinic CohortAndreas Traschütz, Michael Thomas Heneka
JIMD Reports|September 14, 2016
Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare DiseasesChristopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, et al.
JIMD Reports|June 21, 2017
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn ScreeningR S Carling, D Burden, I Hutton, et al.
JIMD Reports|July 13, 2017
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested PathomechanismsMarcel du Moulin, Bastian Thies, Martin Blohm, et al.
JIMD Reports|April 15, 2018
Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the LiteratureJosefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, et al.
JIMD Reports|June 21, 2018
Sialuria: Ninth Patient Described Has a Novel Mutation in GNENoelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, et al.
JIMD Reports|February 15, 2015
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisE J Bhoj, M Li, R Ahrens-Nicklas, et al.
JIMD Reports|February 15, 2015
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot StudyMary Ellen Lynch, Nancy L Potter, Claire D Coles, et al.
Pageof 125