JIMD Reports - Volume 10

  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 10)

Table of contents

  1. Front Matter
    Pages i-vi
    PDF
  2. 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 et al.
    Pages 1-9
  3. Chitotriosidase Deficiency: A Mutation Update in an African Population
    Silke Arndt, Angela Hobbs, Iain Sinclaire, Anthony B. Lane
    Pages 11-16
  4. 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 et al.
    Pages 17-22
  5. 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
    Pages 23-31
  6. 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 et al.
    Pages 33-38
  7. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
    L. de Boer, L. A. J. Kluijtmans, E. Morava
    Pages 39-40
  8. 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 et al.
    Pages 41-44
  9. 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
    Pages 45-52
  10. Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
    Curtis R. Coughlin II, Keith Hyland, Rebecca Randall, Can Ficicioglu
    Pages 53-56
  11. 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 et al.
    Pages 57-59
  12. 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 de las Heras, Anna Duat Rodríguez, Verónica Cantarín Extremera
    Pages 61-68
  13. 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
    Pages 69-78
  14. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease
    James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn
    Pages 79-82
  15. 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 et al.
    Pages 83-85
  16. 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 et al.
    Pages 87-94
  17. 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 et al.
    Pages 95-102
  18. 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 et al.
    Pages 103-106
  19. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
    Pratibha Singhi, Linda De Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini
    Pages 107-111
  20. 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 et al.
    Pages 113-117 Open Access
    PDF

About this book

Introduction

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Keywords

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Sektionen für Humangenetik und KlinischeMedizinische Universität InnsbruckInnsbruckAustria
  2. 2.Washington State University, Clinical Pharmacology UnitDivision of Health SciencesSpokaneUSA
  3. 3., Department of BiochemistryUniversity of OxfordOxfordUnited Kingdom
  4. 4.Medical Center, Department of PediatricsRadboud University NijmegenNijmegenNetherlands
  5. 5.Heidelberg University HospitalCenter for Child and Adolescent MedicineHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-37334-3
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-37333-6
  • Online ISBN 978-3-642-37334-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book
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