JIMD Reports - Case and Research Reports, 2012/1

Front Matter

Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing

• Lindsay S. Paull, Michael J. Lipinski, William G. Wilson, Shawn E. Lipinski

Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

• Elisabeth De Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O’Loughlin, David R Thorburn et al.

Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

• Cristina Villar, Jaume Campistol, Carmen Fons, Judith Armstrong, Anna Mas, Aida Ormazabal et al.

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

• Valentina Paracchini, Manuela Seia, Sara Raimondi, Lucy Costantino, Patrizia Capasso, Luigi Porcaro et al.

Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome

• Piotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, Piotr Gietka, Anna Smorczewska-Kiljan, Maciej Pronicki et al.

Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference

• Laura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, Lluïsa Vilageliu, Daniel Grinberg

The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained

• Tessa Wassenberg, Leo A. H. Monnens, Ben P. B. H. Geurtz, Ron A. Wevers, Marcel M. Verbeek, Michèl A. A. P. Willemsen

A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction

• Ellen H. Jeninga, Monique de Vroede, Nicole Hamers, Johannes M. P. J. Breur, Nanda M. Verhoeven-Duif, Ruud Berger et al.

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

• Andrea Zatkova, Tatiana Sedlackova, Jan Radvansky, Helena Polakova, Martina Nemethova, Robert Aquaron et al.

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

• Karin Naess, Michela Barbaro, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Ulrika von Döbeln et al.

Epilepsy in Biotinidase Deficiency After Biotin Treatment

• Salvador Ibáñez Micó, Rosario Domingo Jiménez, Eduardo Martínez Salcedo, Helena Alarcón Martínez, Alberto Puche Mira, Carlos Casas Fernández

Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase

• Giovanni V. Coppa, Dania Buzzega, Lucia Zampini, Francesca Maccari, Lucia Santoro, Fabio Galeotti et al.

Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

• Manuel Méndez, Barbara X. Granata, María J. Morán Jiménez, Victoria E. Parera, Alcira Batlle, Rafael Enríquez de Salamanca et al.

Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

• Evelien Zoons, Tom J. de Koning, Nico G. G. M. Abeling, Marina A. J. Tijssen

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype

• S. Huybrechts, C. De Laet, P. Bontems, S. Rooze, H. Souayah, Y. Sznajer et al.

A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

• Muhammad Ali Pervaiz, Gerald Gau, Allan S. Jaffe, Amy K. Saenger, Linnea Baudhuin, Jay Ellison

Lymphatic Edema in Congenital Disorders of Glycosylation

• Ruud HJ Verstegen, Miranda Theodore, Hans van de Klerk, Eva Morava

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

• Maria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, Sofia Quental, Flemming Wibrand, Allan M. Lund et al.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)

• C. R. D. C. Quaio, H. Grinberg, M. L. C. Vieira, A. C. Paula, G. N. Leal, I. Gomy et al.