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Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.Journal of Inherited Metabolic Disease|December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemiaSuha Daas, Nasser Abu Salah, Yair Anikster, et al.American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.Brain : a Journal of Neurology|August 13, 2015
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyJoerg P Halter, W Michael, M Schüpbach, et al.Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.Journal of Inherited Metabolic Disease|September 8, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International NetworkMichio Hirano, Valerio Carelli, Roberto De Giorgio, et al.Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.Orphanet Journal of Rare Diseases|August 2, 2014
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practiceSebene Mayorandan, Uta Meyer, Gülden Gokcay, et al.Pageof 13