Ausgabe 1/2010
Inhalt (40 Artikel)
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez, Fernando Santos
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009
Sébastien Héritier, Martine Le Merrer, Francis Jaubert, Michèle Bigorre, Marion Gillibert-Yvert, Benoit de Courtivron, Makram Ziade, Yves Bertrand, Christian Carrie, Pascal Chastagner, Cécile Bost-Bru, Jean-Claude Léonard, Marie Ouache, Liliane Boccon-Gibod, Pierre Mary, Jacques de Blic, Isabelle Pin, Daniel Wendling, Yann Revillon, Véronique Houdoin, Véronique Forin, Hubert Ducou Lepointe, Jane Languepin, Jeanne Wagnon, Ralph Epaud, Brigitte Fauroux, Jean Donadieu
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis
Serena Botto Poala, Gianni Bisogno, Raffaella Colombatti
Mucopolysaccharidosis VI
Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean Turbeville
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
Pedro Acién, Francisco Galán, Irene Manchón, Eva Ruiz, Maribel Acién, Luis A Alcaraz
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs, Jaak Jaeken
A review of trisomy X (47,XXX)
Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism
Laurence Amar, Pierre-François Plouin, Olivier Steichen
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia
Hilbert Grievink, Kathryn M Stowell
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Louise LC Pinto, Taiane A Vieira, Roberto Giugliani, Ida VD Schwartz
Diagnosis and mortality in 47,XYY persons: a registry study
Kirstine Stochholm, Svend Juul, Claus H Gravholt
Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case report
Jelka G Orsoni, Bruno Laganà, Pierangela Rubino, Laura Zavota, Salvatore Bacciu, Paolo Mora
Silver-Russell syndrome: genetic basis and molecular genetic testing
Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler
Joubert Syndrome and related disorders
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente
Hereditary combined deficiency of the vitamin K-dependent clotting factors
Mariasanta Napolitano, Guglielmo Mariani, Mario Lapecorella
Interstitial lung diseases in children
Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux, Harriet Corvol
Bleeding disorders in the tribe: result of consanguineous in breeding
Munira Borhany, Zaen Pahore, Zeeshan ul Qadr, Muhammad Rehan, Arshi Naz, Asif Khan, Saqib Ansari, Tasneem Farzana, Muhammad Nadeem, Syed Amir Raza, Tahir Shamsi
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers
Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Anne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, Niels Gregersen, Michèle Brivet, Daniel Rabier, Silvia Napuri-Gouel, Dries Dobbelaere, Karine Mention-Mulliez, Annie Martin-Ponthieu, Gilbert Briand, David S Millington, Christine Vianey-Saban, Ronald JA Wanders, Joseph Vamecq
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
Hauke Schneider, Alexandra Lingesleben, Hans-Peter Vogel, Rita Garuti, Sebastiano Calandra
In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunction
Mario Manto, Josep Dalmau, Adrien Didelot, Véronique Rogemond, Jérôme Honnorat
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages
Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti, Valeria Dall'Asta
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian
The diagnosis of inherited metabolic diseases by microarray gene expression profiling
Monica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, Bryan D Young, David Perrett, Michael P Champion, Jan-Willem Taanman, Anthony Fensom, Anthony M Marinaki
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Çakmakçı, Semra Hız Kurul, Eray Dirik, Jocelyn Laporte
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Giuseppina Andreotti, Mario R Guarracino, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt, Isabelle Meyts
Toxic epidermal necrolysis and Stevens-Johnson syndrome
Thomas Harr, Lars E French