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JIMD Reports|February 23, 2013
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in DenmarkLuise Borch, Allan Meldgaard Lund, Flemming Wibrand, et al.
JIMD Reports|February 23, 2013
Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type CNiklas Mattsson, Henrik Zetterberg, Simona Bianconi, et al.
JIMD Reports|February 23, 2013
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher diseaseMaciej Machaczka, Martin Paucar Arce, Malgorzata Rucinska, et al.
JIMD Reports|February 23, 2013
Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD MutationsDésirée Caselli, Rolando Cimaz, Roberta Besio, et al.
JIMD Reports|February 23, 2013
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic TestingLindsay S Paull, Michael J Lipinski, William G Wilson, et al.
JIMD Reports|February 23, 2013
Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonatesValentina Paracchini, Manuela Seia, Sara Raimondi, et al.
JIMD Reports|February 23, 2013
Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndromePiotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, et al.
JIMD Reports|February 23, 2013
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interferenceLaura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, et al.
JIMD Reports|February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explainedTessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.
JIMD Reports|February 23, 2013
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial DysfunctionEllen H Jeninga, Monique de Vroede, Nicole Hamers, et al.
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