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JIMD reports

Showing results (481-490 of 1,250) with videos related to

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JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
JIMD Reports|July 13, 2022
Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reportsAseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, et al.
JIMD Reports|July 13, 2022
Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantationStefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, et al.
JIMD Reports|January 31, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell TransplantationA S Kunin-Batson, E G Shapiro, K D Rudser, et al.
JIMD Reports|December 16, 2014
Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case seriesAmy Brown, Louise Crowe, Miriam H Beauchamp, et al.
JIMD Reports|October 3, 2015
Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase DeficiencyJulie Chantreuil, Géraldine Favrais, Nadine Fakhri, et al.
JIMD Reports|October 11, 2015
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Agata Fiumara, Rita Barone, Giuliana Del Campo, et al.
JIMD Reports|October 18, 2015
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 DeficiencyJennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, Marie Crahes, et al.
JIMD Reports|September 28, 2015
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like ProfilesClément Pontoizeau, Florence Habarou, Anaïs Brassier, et al.
JIMD Reports|September 27, 2014
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type IIILindsey Welling, Jan Pieter Marchal, Peter van Hasselt, et al.
Pageof 125

Showing results (481-490 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
JIMD Reports|July 13, 2022
Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reportsAseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, et al.
JIMD Reports|July 13, 2022
Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantationStefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, et al.
JIMD Reports|January 31, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell TransplantationA S Kunin-Batson, E G Shapiro, K D Rudser, et al.
JIMD Reports|December 16, 2014
Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case seriesAmy Brown, Louise Crowe, Miriam H Beauchamp, et al.
JIMD Reports|October 3, 2015
Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase DeficiencyJulie Chantreuil, Géraldine Favrais, Nadine Fakhri, et al.
JIMD Reports|October 11, 2015
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Agata Fiumara, Rita Barone, Giuliana Del Campo, et al.
JIMD Reports|October 18, 2015
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 DeficiencyJennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, Marie Crahes, et al.
JIMD Reports|September 28, 2015
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like ProfilesClément Pontoizeau, Florence Habarou, Anaïs Brassier, et al.
JIMD Reports|September 27, 2014
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type IIILindsey Welling, Jan Pieter Marchal, Peter van Hasselt, et al.
Pageof 125