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JIMD Reports|July 1, 2015
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C DiseaseMahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, et al.JIMD Reports|May 13, 2020
Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variantsElena A Kamenets, Elena A Gusarova, Natalia V Milovanova, et al.JIMD Reports|May 13, 2020
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrumPippa Staps, Judith van Gaalen, Peter van Domburg, et al.JIMD Reports|May 13, 2020
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and careMattias Rudebeck, Ciarán Scott, Nicolas Sireau, et al.JIMD Reports|May 13, 2020
ATP6AP1-CDG: Follow-up and female phenotypePatryk Lipiński, Dariusz Rokicki, Anna Bogdańska, et al.JIMD Reports|May 13, 2020
Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitiansJoyanna Hansen, Suzanne Hollander, Nicoletta Drilias, et al.JIMD Reports|November 7, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variantWui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, et al.JIMD Reports|November 7, 2022
Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrateSarah Catharina Grünert, Anke Schumann, Ute SpiekerkoetterJIMD Reports|January 13, 2023
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acidMartina Messina, Emanuela Manea, Thomas Cullup, et al.JIMD Reports|January 13, 2023
Transcriptomic study in explanted liver from a patient with acute intermittent porphyriaJordi To-Figueras, Esther Titos, Paula Aguilera, et al.Pageof 127