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Zschocke, Johannes

JIMD Reports - Volume 10

Zschocke, Johannes - JIMD Reports - Volume 10, ebook

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ISBN: 9783642373343
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Table of contents

1. Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates
Fatma A. Al-Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef L. Hertecant, Fatma Bastaki, Abdul-Kader Souid

2. Chitotriosidase Deficiency: A Mutation Update in an African Population
Silke Arndt, Angela Hobbs, Iain Sinclaire, Anthony B. Lane

3.
NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome
Adela Della Marina, Ulrike Schara, Angela Pyle, Claudia Möller-Hartmann, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Helen Griffin, Mauro Santibanez-Koref, Patrick F. Chinnery, Rita Horvath

4. Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria
Teresa D. Douglas, Mary J. Kennedy, Meghan E. Quirk, Sarah H. Yi, Rani H. Singh

5. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease
Pranoot Tanpaiboon, Jennifer L. Sloan, Patrick F. Callahan, Dorothea McAreavey, P. Suzanne Hart, Uta Lichter-Konecki, Dina Zand, Charles P. Venditti

6. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
L. Boer, L. A. J. Kluijtmans, E. Morava

7. MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation
Armin Finkenstedt, Melanie Schranz, Sylvia Bösch, Daniela Karall, Sabine Scholl Bürgi, Christian Ensinger, Mathias Drach, Johannes A. Mayr, Andreas R Janecke, Wolfgang Vogel, David Nachbaur, Heinz Zoller

8. Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases
Fiona M. Lewis, David J. Coman, Maryann Syrmis, Sarah Kilcoyne, Bruce E. Murdoch

9. Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
Curtis R. Coughlin, Keith Hyland, Rebecca Randall, Can Ficicioglu

10. Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case
Madeleine E. Sharp, Cornelia Laule, Stephen Nantel, Burkhard Mädler, Ritu B. Aul, Samuel Yip, Sandra Sirrs

11. Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population
Laura López-Marín, Luis G. Gutiérrez-Solana, Luis Aldamiz-Echevarria Azuara, Rogelio Simón las Heras, Anna Duat Rodríguez, Verónica Cantarín Extremera

12. Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)
Xiaowei Fu, Yan-Kang Xu, Penny Chan, Paul K. Pattengale

13. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn

14. Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet
S. Rubin, A. L. Le Piffer, M. B. Rougier, M. N. Delyfer, J. F. Korobelnik, I. Redonnet-Vernhet, C. Marchal, C. Goizet, S. Mesli, C. Gonzalez, H. Gin, V. Rigalleau

15. Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I
L. Schroeder, P. Orchard, C. B. Whitley, J. M. Berry, J. Tolar, W. Miller, E. A. Braunlin

16. A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
Masashi Morita, Junpei Kobayashi, Kozue Yamazaki, Kosuke Kawaguchi, Ayako Honda, Kenji Sugai, Nobuyuki Shimozawa, Reiji Koide, Tsuneo Imanaka

17. Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy
Malcolm Proudfoot, Philip Jardine, Agne Straukiene, Rupert Noad, Andrew Parrish, Sian Ellard, Stuart Weatherby

18. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
Pratibha Singhi, Linda Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini

19. The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients
Michel Tchan, M. Westbrook, G. Wilcox, R. Cutler, N. Smith, R. Penman, B. J. G. Strauss, B. Wilcken

20. Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant
Sampada Gupta, Anne O’Meara, Robert Wynn, Michael McDermott

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

Author(s)
 
 
 
 
Publisher
Springer
Publication year
2013
Language
en
Edition
2013
Series
JIMD Reports
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783642373343

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