JIMD Reports - Case and Research Reports, 2011/1

Front Matter

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

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

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

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.

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.

Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

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

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.

Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease

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

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

Outcomes of Phenylketonuria with Relevance to Follow-Up

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

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

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.

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.

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

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

• Isabelle De Bie, Emmanuelle Lemyre, Marie Lambert

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

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.

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.

Utility of Rare Disease Registries in Latin America

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

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.