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JIMD Reports|May 14, 2015
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian PopulationsT D Da Silva-José, K J Juárez-Rendón, J A Juárez-Osuna, et al.JIMD Reports|May 13, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylationPatrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, et al.JIMD Reports|May 13, 2020
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patientSunita Bijarnia-Mahay, Vivek Jain, Beat ThönyJIMD Reports|May 13, 2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1Katelynn M Wilton, Joel A Morales-Rosado, Duygu Selcen, et al.JIMD Reports|May 13, 2020
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemmaShirley Judd, Milad Khedr, Anna M Milan, et al.JIMD Reports|May 13, 2020
Food insecurity in females with phenylketonuriaKathryn E Coakley, Suzanne Porter-Bolton, Mary L Salvatore, et al.JIMD Reports|September 6, 2021
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case seriesArthavan Selvanathan, Jane Kinsella, Francesca Moore, et al.JIMD Reports|September 6, 2021
Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literatureLakshminarayan Ranganath, Milad Khedr, Leanne A Evans, et al.JIMD Reports|September 6, 2021
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?Nicola Vitturi, Livia Lenzini, Concetta Luisi, et al.JIMD Reports|September 6, 2021
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, et al.Pageof 127