JIMD Reports, Volume 38

1. Front Matter

   Pages i-vi

   PDF

2. First Successful Conception Induced by a Male Cystinosis Patient

   • Koenraad R. Veys, Kathleen W. D’Hauwers, Angelique J. C. M. van Dongen, Mirian C. Janssen, Martine T. P. Besouw, Ellen Goossens et al.

   Pages 1-6

3. Glutaric Acidemia Type 1: A Case of Infantile Stroke

   • Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş

   Pages 7-12

4. Treatment of Depression in Adults with Fabry Disease

   • Nadia Ali, Scott Gillespie, Dawn Laney

   Pages 13-21

5. Mutations in GMPPB Presenting with Pseudometabolic Myopathy

   • Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco et al.

   Pages 23-31

6. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

   • Corrado Angelini, Daniela Tavian, Sara Missaglia

   Pages 33-40

7. Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism

   • Raashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, Munirah Almasned, Bedour S. Handoum, Zuhair N. Al-Hassnan

   Pages 41-44

8. Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry

   • William R. Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M. Lemay, Ana Jovanovic et al.

   Pages 45-51

9. Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

   • F. Habarou, N. Bahi-Buisson, E. Lebigot, C. Pontoizeau, M. T. Abi-Warde, A. Brassier et al.

   Pages 53-59

10. GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A

    • Patricia L. Hall, Regina Laine, John J. Alexander, Arunkanth Ankala, Lisa A. Teot, Hart G. W. Lidov et al.

    Pages 61-65

11. Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice

    • Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi et al.

    Pages 67-74

12. Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening

    • R. S. Carling, D. Burden, I. Hutton, R. Randle, K. John, J. R. Bonham

    Pages 75-80

13. Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1

    • Nathalie Guffon, Anders Bröijersén, Ingrid Palmgren, Mattias Rudebeck, Birgitta Olsson

    Pages 81-88Open Access

14. A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment

    • Mitra Azadeh, Luying Pan, Yongchang Qiu, Ruben Boado

    Pages 89-95

15. An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

    • Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò et al.

    Pages 97-100

16. Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

    • Peter van Vliet, Annelies E. Berden, Mojca K. M. van Schie, Jaap A. Bakker, Christian Heringhaus, Irenaeus F. M. de Coo et al.

    Pages 101-105

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.

The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.

• inherited metabolic diseases
• pediatrics
• medical genetics
• Mendelian disorder
• endocrinology
• metabolic disease

   

• Tulane University Medical School, New Orleans, USA

  Eva Morava

• Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

  Matthias Baumgartner

• Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA

  Marc Patterson

• Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

  Shamima Rahman

• Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

  Verena Peters

 

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