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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.
JIMD Reports|July 13, 2022
Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urineAndrew T Hughes, Anna M Milan, Ella Shweihdi, et al.
JIMD Reports|July 13, 2022
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiencyAshley Hertzog, Arthavan Selvanathan, Rebecca Halligan, et al.
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