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JIMD Reports|July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literatureLucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
JIMD Reports|July 13, 2022
Improving the clinical accuracy and flexibility of the Alkaptonuria severity score indexHarriet E O Cant, Iro Chatzidaki, Birgitta Olsson, et al.
JIMD Reports|July 13, 2022
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiencyLoai A Shakerdi, Jenny McNulty, Barbara Gillman, et al.
JIMD Reports|July 13, 2022
Ascites in infantile onset type II SialidosisKaoutar Tazi, Vanessa Guy-Viterbo, Alexander Gheldof, et al.
JIMD Reports|July 13, 2022
Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasisAlbina Tummolo, Piero Leone, Maria Tolomeo, et al.
JIMD Reports|December 24, 2013
Extraosseous extension caused by epidural hematoma in Gaucher disease mimicking malignant bone tumorTadahiko Kubo, Shoji Shimose, Jun Fujimori, et al.
JIMD Reports|November 19, 2013
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) GeneAlessandra Zanetti, Neslihan Onenli-Mungan, Nursel Elcioglu, et al.
JIMD Reports|March 11, 2016
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of AlkaptonuriaBerardino Porfirio, Roberta Sestini, Greta Gorelli, et al.
JIMD Reports|April 13, 2016
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II DeficiencyAndrew C Edmondson, Jennifer Salant, Lynne A Ierardi-Curto, et al.
JIMD Reports|June 25, 2016
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase DeficiencyJohn M Schreiber, Phillip L Pearl, Irene Dustin, et al.
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