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JIMD Reports - Case and Research Reports, 2011/1

 - JIMD Reports - Case and Research Reports, 2011/1, ebook

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Table of contents

1. Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors
Janice Andersen, Sverre Sandberg, Maalfrid Raaheim, Eva Gjengedal

2. Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians
David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith, Martin B. Delatycki

3. Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı, A. Güzel, L. Mesci, M. Kılıç, D. Aliefendioglu, F. Özçay, M. Gündüz, T. Coşkun

4. Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

Silvia Galletti, Yvonne Nitschke, Anna M. Malavolti, Giulia Aquilano, Giacomo Faldella, Luigi Corvaglia, Frank Rutsch

5. Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders
Sabine Grønborg, Ralph Krätzner, Hendrik Rosewich, Jutta Gärtner

6. First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance
Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, Amel Ben Chehida, Hatem Azzouz, Monique Fontaine, Neji Tebib, Marie Françoise Ben Dridi, Gilbert Briand, Taieb Messaoud, Amel Ben Ammar Elgaaied, Naziha Kaabachi

7. Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease
Takahiro Kanai, Takanori Yamagata, Takane Ito, Jun Odaka, Takashi Saito, Jun Aoyagi, Masahisa Kobayashi, Toya Ohashi, Yoshihiko Ueda, Mariko Y Momoi

8. Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance
Harri Niinikoski, Risto Lapatto, Matti Nuutinen, Laura Tanner, Olli Simell, Kirsti Näntö-Salonen

9. Outcomes of Phenylketonuria with Relevance to Follow-Up
F. J. Spronsen, A. Bélanger-Quintana

10. Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase
Michel C. Tchan, Kerry T. Devine, David O. Sillence

11. Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
M. B. Bistué Millón, M. A. Delgado, N. B. Azar, N. Guelbert, L. Sturiale, D. Garozzo, G. Matthijs, J. Jaeken, Raquel Dodelson Kremer, C. G. Asteggiano

12. Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study
Rigoberto Gadelha Chaves, Janice Carneiro Coelho, Kristiane Michelin-Tirelli, Tibelle Freitas Maurício, Edineide Freitas Maia Chaves, Paulo César Almeida, Carlos Rômulo Filgueira Maurício, Geraldo Barroso Cavalcanti

13. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease
Teresa M. Lee, Erika S. Berman-Rosenzweig, Alfred E. Slonim, Wendy K. Chung

14. Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency
Isabelle Bie, Emmanuelle Lemyre, Marie Lambert

15. Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene
Waleed Brinjikji, Jerry W. Swanson, Carrie Zabel, Peter J. Dyck, Jennifer A. Tracy, Ralitza H. Gavrilova

16. Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia
Alix Mollet-Boudjemline, Aurélie Hubert-Buron, Catherine Boyer-Neumann, Roxana Aldea, Dominique Franco, Pascale Trioche-Eberschweiller, Anne-Elisabeth Mas, Mylène Mabille, Philippe Labrune, Vincent Gajdos

17. Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential
Giancarlo Marca, Sabrina Malvagia, Elisabetta Pasquini, Catia Cavicchi, Amelia Morrone, Federica Ciani, Silvia Funghini, Fabio Villanelli, Enrico Zammarchi, Renzo Guerrini

18. Utility of Rare Disease Registries in Latin America
Ana Maria Martins, Marcelo Kerstenezky, Adriana Linares, Juan Politei, Regina Kohan, Sandra Ospina, Carmen Varas, Jacobo Villalobos, Hernán Amartino, Sergio Franco, Guilhermo Valadez, Roberto Giugliani, Patricio Guerra, Luz Sanches

19. The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
B. Pérez, P. Briones, D. Quelhas, R. Artuch, A. I. Vega, E. Quintana, L. Gort, M. J. Ecay, G. Matthijs, M. Ugarte, C. Pérez-Cerdá

20. Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue
Aida Font, Frederic Tort, Aleix Navarro-Sastre, Victòria Cusí, Judit García-Villoria, Paz Briones, Antonia Ribes

21. Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)
M. L. Couce, D. E. Castiñeiras, J. D. Moure, J. A. Cocho, P. Sánchez-Pintos, J. García-Villoria, D. Quelhas, N. Gregersen, B. S. Andresen, A. Ribes, J. M. Fraga

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

Publisher
Springer
Publication year
2011
Language
en
Edition
1
Series
JIMD Reports
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783642177088

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