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JIMD Reports, Volume 20

  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 20)

Table of contents

  1. Front Matter
    Pages i-vi
    PDF
  2. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings
    Mauricio De Castro, Dina J. Zand, Uta Lichter-Konecki, Brian Kirmse
    Pages 1-4
  3. Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease
    Erin R. McNamara, Stephanie Austin, Laura Case, John S. Wiener, Andrew C. Peterson, Priya S. Kishnani
    Pages 5-10
  4. Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature
    Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, María Bueno, Pilar Quijada-Fraile, Jaime Dalmau et al.
    Pages 11-20
  5. Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of Glucokinase
    Josep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, Sara León, Carmen-María García-Herrero, Olivier Vincent et al.
    Pages 21-26
  6. Morphology and Function of Cerebral Arteries in Adults with Pompe Disease
    Ole Hensel, F. Hanisch, K. Stock, D. Stoevesandt, M. Deschauer, T. Müller
    Pages 27-33
  7. Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?
    Marieke Velema, Erik Boot, Marc Engelen, Carla Hollak
    Pages 35-38
  8. Characterization of Variegate Porphyria Mutations Using a Minigene Approach
    Barbara Xoana Granata, Marco Baralle, Laura De Conti, Victoria Parera, Maria Victoria Rossetti
    Pages 39-44
  9. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
    S. El Chehadeh, C. Bonnet, P. Callier, M. Béri, T. Dupré, M. Payet et al.
    Pages 45-55
  10. Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype
    Eun-Young Choi, Keyur Patel, Marie Reine Haddad, Ling Yi, Courtney Holmes, David S. Goldstein et al.
    Pages 57-63
  11. Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
    Andreas Hahn, Susanne Praetorius, Nesrin Karabul, Johanna Dießel, Dorle Schmidt, Reinald Motz et al.
    Pages 65-75
  12. Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation
    Hannah Y. Coletti, Mieke Aldenhoven, Karina Yelin, Michele D. Poe, Joanne Kurtzberg, Maria L. Escolar
    Pages 77-86
  13. Psychological Health in Adults with Morquio Syndrome
    Nadia Ali, S. Cagle
    Pages 87-93
  14. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
    Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni et al.
    Pages 95-101
  15. Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
    J. Rasmussen, J. A. Thomsen, J. H. Olesen, T. M. Lund, M. Mohr, J. Clementsen et al.
    Pages 103-111
  16. Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula
    Ana Marcão, María L. Couce, Célia Nogueira, Helena Fonseca, Filipa Ferreira, José M. Fraga et al.
    Pages 113-120

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

Mendelian disorder endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • Matthias Baumgartner
    • 2
  • Eva Morava
    • 3
  • Marc Patterson
    • 4
  • Shamima Rahman
    • 5
  • Verena Peters
    • 6
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.Division for Metabolic DiseasesUniversity Children´s HospitalZürichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo ClinicRochesterUSA
  5. 5.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-46700-8
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-46699-5
  • Online ISBN 978-3-662-46700-8
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site