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JIMD Reports|January 21, 2021
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseSamuela A Fernandes, Aleena A Khan, Tracy Boggs, et al.
JIMD Reports|December 9, 2016
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn ScreeningCallum Wilson, Detlef Knoll, Mark de Hora, et al.
JIMD Reports|December 9, 2016
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyElsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, et al.
JIMD Reports|December 13, 2016
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in FibroblastsDamien Bouvier, Christine Vianey-Saban, Séverine Ruet, et al.
JIMD Reports|November 6, 2016
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) DeficiencySavita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, et al.
JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.
JIMD Reports|February 22, 2017
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast DiagnosisLisette M Berends, Eduard A Struys, Birthe Roos, et al.
JIMD Reports|August 9, 2019
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemiaYasuhiko Ago, Hideo Sugie, Tokiko Fukuda, et al.
JIMD Reports|August 9, 2019
N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effectsSufin Yap, Nadine Gougeard, Anthony R Hart, et al.
JIMD Reports|October 24, 2018
Acute and Chronic Management in an Atypical Case of Ethylmalonic EncephalopathyThomas M Kitzler, Indra R Gupta, Bradley Osterman, et al.
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