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JIMD Reports|January 22, 2014
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' ExperienceS Chadwick, K Fitzgerald, B Weiss, et al.
JIMD Reports|May 23, 2014
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson DiseaseM J Barrett, V L Shanker, W L Severt, et al.
JIMD Reports|January 29, 2014
Fructose-1,6-bisphosphatase deficiency: a case of a successful pregnancy by closely monitoring metabolic controlGenki Sugita, Hideaki Tsuyoshi, Koji Nishijima, et al.
JIMD Reports|January 29, 2015
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic MarkersS El Chehadeh, C Bonnet, P Callier, et al.
JIMD Reports|January 29, 2015
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in GermanyAndreas Hahn, Susanne Praetorius, Nesrin Karabul, et al.
JIMD Reports|February 15, 2015
A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic GalactosemiaThanh-Thanh Claire V Tran, Ying Liu, Michael E Zwick, et al.
JIMD Reports|February 15, 2015
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter SyndromeJohanna Galvis, Jannet González, Alfredo Uribe, et al.
JIMD Reports|February 11, 2015
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase DeficiencySema Kalkan Uçar, Burcu Ozbaran, Yasemin Atik Altinok, et al.
JIMD Reports|February 11, 2015
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by BreastfeedingHayato Tada, Masa-Aki Kawashiri, Mutsuko Takata, et al.
JIMD Reports|February 2, 2015
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and MicrocephalyJun Hwa Lee, André B P van Kuilenburg, N G G M Abeling, et al.
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