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Brown, Garry

JIMD Reports - Case and Research Reports, 2012/4

Brown, Garry - JIMD Reports - Case and Research Reports, 2012/4, e-bok

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ISBN: 9783642324420
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Table of contents

1. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
Eugène F. Diekman, Carolien C. A. Boelen, Berthil H. C. M. T. Prinsen, Lodewijk IJlst, Marinus Duran, Tom J. Koning, Hans R. Waterham, Ronald J. A. Wanders, Frits A. Wijburg, Gepke Visser

2. Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?
Carla Pinto Moura, Carlos Soares, Daniela Seixas, Margarida Ayres-Bastos, João Paulo Oliveira

3. Hereditary Intrinsic Factor Deficiency in Chaldeans
Amy C. Sturm, Elizabeth C. Baack, Michael B. Armstrong, Deborah Schiff, Ayesha Zia, Sureyya Savasan, Albert Chapelle, Stephan M. Tanner

4. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene
Christiaan P Sentner, Yvonne J Vos, Klary N Niezen-Koning, Bart Mol, G Peter A. Smit

5. Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
A A M Morris, S E Olpin, M J Bennett, A Santani, J Stahlschmidt, P McClean

6. Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease
Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, Bárbara Corrêa Krug, Cristina B. O. Netto, Neusa Sica Rocha, Paulo D. Picon, Ida Vanessa D. Schwartz

7. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
Mónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, Marian A. Kroos, Sandra Yaneth Ospina, Juan Fernando Mejía, Jesús Alfredo Uribe, Arnold J. J. Reuser, Paul Laissue

8. Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
Stuart Lavery, Dima Abdo, Mara Kotrotsou, Geoff Trew, Michalis Konstantinidis, Dagan Wells

9. The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I
S. Yano, C. Li, Z. Pavlova

10. Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
J. H. Paul Wilson, Maarten Sinaasappel, Fred K. Lotgering, Janneke G. Langendonk

11. Autism Spectrum Disorder in a Child with Propionic Acidemia
M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet, A. Qari, S. Al-Muaigl, M. Ghaziuddin

12. Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease
Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, Daniela D’Agnano, Maria Teresa Giannini, Italo Antonozzi, Carla Carducci

13. β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype
Tereza Moore, Jonathan A. Bernstein, Sylvie Casson-Parkin, Tina M. Cowan

14. In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography
Aneal Khan, Zachary Weinstein, David A. Hanley, Robin Casey, Colleen McNeil, Barbara Ramage, Steven Boyd

15. A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)
Ying Liu, Kristi Bentler, Bradford Coffee, Juliet S. Chhay, Kyriakie Sarafoglou, Judith L. Fridovich-Keil

16. Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann

17. High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase
Katja M J Heitink-Pollé, Berthil H. C. M. T. Prinsen, Tom J Koning, Peter M Hasselt, Marc B Bierings

18. Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU
Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, Bengt Frode Kase

19. Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
Laura Deroma, Annalisa Sechi, Andrea Dardis, Daniela Macor, Giulia Liva, Giovanni Ciana, Bruno Bembi

20. 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
Eduardo Calpena, Mercedes Casado, Dolores Martínez-Rubio, Andrés Nascimento, Jaume Colomer, Eva Gargallo, Angels García-Cazorla, Francesc Palau, Rafael Artuch, Carmen Espinós

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

Författare
 
Utgivare
Springer
Utgivningsår
2013
Språk
en
Utgåva
2013
Serie
JIMD Reports
Sidantal
7 sidor
Kategori
Hälsa, skönhet, mode
Format
E-bok
eISBN (PDF)
9783642324420

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