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JIMD reports

Showing results (951-960 of 1,250) with videos related to

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JIMD Reports|February 28, 2016
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy SyndromeM Pineda, M O'Callaghan, A Fernandez Lopez, et al.
JIMD Reports|November 4, 2015
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage DiseaseIrene J Hoogeveen, Rixt M van der Ende, Francjan J van Spronsen, et al.
JIMD Reports|November 6, 2015
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRSCarlos R Ferreira, Molly H Silber, Taeun Chang, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
JIMD Reports|November 6, 2015
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseDivya Ajay, Erin R McNamara, Stephanie Austin, et al.
JIMD Reports|October 30, 2015
The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?Anne Daly, S Evans, A Gerrard, et al.
JIMD Reports|April 20, 2018
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case SeriesA Selvanathan, C Ellaway, C Wilson, et al.
JIMD Reports|July 13, 2022
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type IbSarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, et al.
JIMD Reports|July 13, 2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patientsLydia Healy, Meabh O'Shea, Jennifer McNulty, et al.
JIMD Reports|July 13, 2022
Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patientsMohammad S Z Ahmad, Mahmoud Ahmed, Milad Khedr, et al.
Pageof 125

Showing results (951-960 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 28, 2016
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy SyndromeM Pineda, M O'Callaghan, A Fernandez Lopez, et al.
JIMD Reports|November 4, 2015
Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage DiseaseIrene J Hoogeveen, Rixt M van der Ende, Francjan J van Spronsen, et al.
JIMD Reports|November 6, 2015
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRSCarlos R Ferreira, Molly H Silber, Taeun Chang, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
JIMD Reports|November 6, 2015
Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseDivya Ajay, Erin R McNamara, Stephanie Austin, et al.
JIMD Reports|October 30, 2015
The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?Anne Daly, S Evans, A Gerrard, et al.
JIMD Reports|April 20, 2018
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case SeriesA Selvanathan, C Ellaway, C Wilson, et al.
JIMD Reports|July 13, 2022
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type IbSarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, et al.
JIMD Reports|July 13, 2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patientsLydia Healy, Meabh O'Shea, Jennifer McNulty, et al.
JIMD Reports|July 13, 2022
Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patientsMohammad S Z Ahmad, Mahmoud Ahmed, Milad Khedr, et al.
Pageof 125