JIMD Reports, Volume 38

1. First Successful Conception Induced by a Male Cystinosis Patient
Koenraad R. Veys, Kathleen W. D’Hauwers, Angelique J. C. M. Dongen, Mirian C. Janssen, Martine T. P. Besouw, Ellen Goossens, Lambert P. Heuvel, Alex A. M. M. Wetzels, Elena N. Levtchenko

2. Glutaric Acidemia Type 1: A Case of Infantile Stroke
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş

3. Treatment of Depression in Adults with Fabry Disease
Nadia Ali, Scott Gillespie, Dawn Laney

4. Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno

5. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
Corrado Angelini, Daniela Tavian, Sara Missaglia

6. 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

7. 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, Dominique P. Germain, Carmen Varas, Katherine Nicholls, Frank Weidemann, Robert J. Hopkin

8. 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, K. H. Le Quan Sang, C. Broissand, S. Vuillaumier-Barrot, A. Roubertie, A. Boutron, C. Ottolenghi, P. Lonlay

9. 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, Irina Anselm

10. 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, Shigeo Takashima, Nobuyuki Shimozawa, Tsuneo Imanaka

11. 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

12. 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

13. A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment
Mitra Azadeh, Luying Pan, Yongchang Qiu, Ruben Boado

14. 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, Stefania Reggiani, Angelo B. Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J. Lefeber, Jaak Jaeken

15. Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency
Peter Vliet, Annelies E. Berden, Mojca K. M. Schie, Jaap A. Bakker, Christian Heringhaus, Irenaeus F. M. Coo, Mirjam Langeveld, Marielle A. Schroijen, M. Sesmu Arbous

Avainsanat: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine