JIMD Reports - Case and Research Reports, 2012/4

1. Front Matter

   Pages i-vii

   PDF

2. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

   • Eugène F. Diekman, Carolien C. A. Boelen, Berthil H. C. M. T. Prinsen, Lodewijk IJlst, Marinus Duran, Tom J. de Koning et al.

   Pages 1-6

3. Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?

   • Carla Pinto Moura, Carlos Soares, Daniela Seixas, Margarida Ayres-Bastos, João Paulo Oliveira

   Pages 7-12

4. Hereditary Intrinsic Factor Deficiency in Chaldeans

   • Amy C. Sturm, Elizabeth C. Baack, Michael B. Armstrong, Deborah Schiff, Ayesha Zia, Sureyya Savasan et al.

   Pages 13-18

5. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

   • Christiaan P Sentner, Yvonne J Vos, Klary N Niezen-Koning, Bart Mol, G Peter A. Smit

   Pages 19-26

6. Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

   • A A M Morris, S E Olpin, M J Bennett, A Santani, J Stahlschmidt, P McClean

   Pages 27-29

7. Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

   • Fabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, Bárbara Corrêa Krug, Cristina B. O. Netto, Neusa Sica da Rocha et al.

   Pages 31-37

8. Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

   • Mónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, Marian A. Kroos, Sandra Yaneth Ospina, Juan Fernando Mejía et al.

   Pages 39-48

9. Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer

   • Stuart Lavery, Dima Abdo, Mara Kotrotsou, Geoff Trew, Michalis Konstantinidis, Dagan Wells

   Pages 49-54

10. The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

    • S. Yano, C. Li, Z. Pavlova

    Pages 55-58

11. Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome

    • J. H. Paul Wilson, Maarten Sinaasappel, Fred K. Lotgering, Janneke G. Langendonk

    Pages 59-62

12. Autism Spectrum Disorder in a Child with Propionic Acidemia

    • M. Al-Owain, N. Kaya, H. Al-Shamrani, A. Al-Bakheet, A. Qari, S. Al-Muaigl et al.

    Pages 63-66

13. Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease

    • Vincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, Daniela D’Agnano, Maria Teresa Giannini, Italo Antonozzi et al.

    Pages 67-75

14. β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype

    • Tereza Moore, Jonathan A. Bernstein, Sylvie Casson-Parkin, Tina M. Cowan

    Pages 77-79

15. In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography

    • Aneal Khan, Zachary Weinstein, David A. Hanley, Robin Casey, Colleen McNeil, Barbara Ramage et al.

    Pages 81-88

16. A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)

    • Ying Liu, Kristi Bentler, Bradford Coffee, Juliet S. Chhay, Kyriakie Sarafoglou, Judith L. Fridovich-Keil

    Pages 89-98

17. Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

    • Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl et al.

    Pages 99-102

18. High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

    • Katja M J Heitink-Pollé, Berthil H. C. M. T. Prinsen, Tom J de Koning, Peter M van Hasselt, Marc B Bierings

    Pages 103-108

19. Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU

    • Ingrid Wiig, Kristina Motzfeldt, Elin Bjørge Løken, Bengt Frode Kase

    Pages 109-116

20. Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients

    • Laura Deroma, Annalisa Sechi, Andrea Dardis, Daniela Macor, Giulia Liva, Giovanni Ciana et al.

    Pages 117-122

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.

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

• , Department of Biochemistry, University of Oxford, Oxford, United Kingdom

  Garry Brown

• Medical Center, Department of Pediatrics, Radboud University Nijmegen, Nijmegen, Netherlands

  Eva Morava

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

  Verena Peters

• Biological Sciences, Michigan Technological University, Houghton, USA

  K Michael Gibson

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

  Johannes Zschocke

Policies and ethics