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JIMD Reports|April 28, 2016
Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living DonorAisha Al-Shamsi, Alastair Baker, Anil Dhawan, et al.
JIMD Reports|January 3, 2018
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient PatientsPatryk Lipiński, Joanna Pawłowska, Teresa Stradomska, et al.
JIMD Reports|November 20, 2020
Correction to: Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
JIMD Reports|September 9, 2020
Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapyAdrian C Mattke, Fumiaki Shikata, James McGill, et al.
JIMD Reports|September 9, 2020
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosisLucia Santoro, Lucia Zampini, Lucia Padella, et al.
JIMD Reports|September 9, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in JordanCarla Carducci, Wajdi Amayreh, Haneen Ababneh, et al.
JIMD Reports|September 9, 2020
Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic interventionAmy Kritzer, Stacey Tarrant, Karen Sussman-Karten, et al.
JIMD Reports|September 9, 2020
GYG1: A distal myopathy with polyglucosan bodiesStefan Nicolau, Jennifer A Tracy, David J Pisapia, et al.
JIMD Reports|November 18, 2020
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiencyTalia Jacobi-Polishook, Naama Yosha-Orpaz, Yair Sagi, et al.
JIMD Reports|November 18, 2020
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literatureJoy Yaplito-Lee, Gautham Pai, Winita Hardikar, et al.
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