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JIMD Reports - Case and Research Reports, 2012/1

 - JIMD Reports - Case and Research Reports, 2012/1, ebook

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ISBN: 9783642257520
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Table of contents

1. 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

2. Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients
Elisabeth Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O’Loughlin, David R Thorburn, Vicki Jermyn, Michael O Stormon

3. 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, Rafael Artuch

4. 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, Carla Colombo, Domenico A Coviello, Tiziana Mariani, Emanuela Manzoni, Monica Sangiovanni, Carlo Corbetta

5. 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, Barbara Czartoryska, Anna Tylki-Szymanska

6. 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

7. 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

8. A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction
Ellen H. Jeninga, Monique Vroede, Nicole Hamers, Johannes M. P. J. Breur, Nanda M. Verhoeven-Duif, Ruud Berger, Eric Kalkhoven

9. 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, Ismail Dursun, Jeannette L. Usher, Ludevit Kadasi

10. Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome
Karin Naess, Michela Barbaro, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Ulrika Döbeln, Nils-Göran Larsson, Antal Nemeth, Nicole Lesko

11. 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

12. 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, Tiziana Galeazzi, Orazio Gabrielli, Nicola Volpi

13. 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 Salamanca, María V. Rossetti

14. Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis
Evelien Zoons, Tom J. Koning, Nico G. G. M. Abeling, Marina A. J. Tijssen

15. Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype
S. Huybrechts, C. Laet, P. Bontems, S. Rooze, H. Souayah, Y. Sznajer, L. Sturiale, D. Garozzo, G. Matthijs, A. Ferster, J. Jaeken, P. Goyens

16. 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

17. Lymphatic Edema in Congenital Disorders of Glycosylation
Ruud HJ Verstegen, Miranda Theodore, Hans Klerk, Eva Morava

18. 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 Silva Santos, Lúcia Lacerda, Sofia Quental, Flemming Wibrand, Allan M. Lund, Klaus B. Johansen, Maria João Prata, Sandra Alves

19. 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, S. Leistner-Segal, R. Giugliani, D. R. Bertola, C. A. Kim

20. Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
Julnar Usta, Hussein Abu Daya, Houssam Halawi, Ibraheem Al-Shareef, Omar El-Rifai, Ahmad H. Malli, Ala I. Sharara, Robert H. Habib, Kassem Barada

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology

Publisher
Springer
Publication year
2012
Language
en
Edition
2012
Series
JIMD Reports
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783642257520

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