JIMD Reports - Case and Research Reports, 2011/1

1. Front Matter

   Pages i-vi

   PDF

2. Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors

   • Janice Andersen, Sverre Sandberg, Maalfrid Raaheim, Eva Gjengedal

   Pages 1-7

3. Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

   • David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith, Martin B. Delatycki

   Pages 9-15

4. Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

   • A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı, A. Güzel, L. Mesci et al.

   Pages 17-21

5. Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

   • Silvia Galletti, Yvonne Nitschke, Anna M. Malavolti, Giulia Aquilano, Giacomo Faldella, Luigi Corvaglia et al.

   Pages 23-27

6. Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

   • Sabine Grønborg, Ralph Krätzner, Hendrik Rosewich, Jutta Gärtner

   Pages 29-36

7. First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

   • Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, Amel Ben Chehida, Hatem Azzouz, Monique Fontaine et al.

   Pages 37-38

8. Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease

   • Takahiro Kanai, Takanori Yamagata, Takane Ito, Jun Odaka, Takashi Saito, Jun Aoyagi et al.

   Pages 39-42

9. Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

   • Harri Niinikoski, Risto Lapatto, Matti Nuutinen, Laura Tanner, Olli Simell, Kirsti Näntö-Salonen

   Pages 43-47

10. Outcomes of Phenylketonuria with Relevance to Follow-Up

    • F. J. van Spronsen, A. Bélanger-Quintana

    Pages 49-55

11. Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

    • Michel C. Tchan, Kerry T. Devine, David O. Sillence

    Pages 57-64

12. Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

    • M. B. Bistué Millón, M. A. Delgado, N. B. Azar, N. Guelbert, L. Sturiale, D. Garozzo et al.

    Pages 65-72

13. Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study

    • Rigoberto Gadelha Chaves, Janice Carneiro Coelho, Kristiane Michelin-Tirelli, Tibelle Freitas Maurício, Edineide de Freitas Maia Chaves, Paulo César de Almeida et al.

    Pages 73-78

14. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease

    • Teresa M. Lee, Erika S. Berman-Rosenzweig, Alfred E. Slonim, Wendy K. Chung

    Pages 79-82

15. Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency

    • Isabelle De Bie, Emmanuelle Lemyre, Marie Lambert

    Pages 83-88

16. Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene

    • Waleed Brinjikji, Jerry W. Swanson, Carrie Zabel, Peter J. Dyck, Jennifer A. Tracy, Ralitza H. Gavrilova

    Pages 89-96

17. Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia

    • Alix Mollet-Boudjemline, Aurélie Hubert-Buron, Catherine Boyer-Neumann, Roxana Aldea, Dominique Franco, Pascale Trioche-Eberschweiller et al.

    Pages 97-106

18. Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

    • Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Catia Cavicchi, Amelia Morrone, Federica Ciani et al.

    Pages 107-109

19. Utility of Rare Disease Registries in Latin America

    • Ana Maria Martins, Marcelo Kerstenezky, Adriana Linares, Juan Politei, Regina Kohan, Sandra Ospina et al.

    Pages 111-115

20. The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

    • B. Pérez, P. Briones, D. Quelhas, R. Artuch, A. I. Vega, E. Quintana et al.

    Pages 117-123

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

• c/o ACB, London, United Kingdom

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