Orphanet Journal of Rare Diseases - oalib

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Orphanet Journal of Rare Diseases

ISSN Print: 1750-1172

ISSN Online:

主页: http://www.ojrd.com

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Ulu？ Yi？, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O Schwab, Uta Tacke, Friedrich K Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard, Georg F Hoffmann

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

Eeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio

Xeroderma pigmentosum

Alan R Lehmann, David McGibbon, Miria Stefanini

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Maria Roberti, Cecilia Surace, Maria Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Tomaiuolo, Stefano Petrocchi, Adriano Angioni

Estimating the budget impact of orphan medicines in Europe: 2010 - 2020

Carina Schey, Tsveta Milanova, Adam Hutchings

Atypical hemolytic uremic syndrome

Chantal Loirat, Véronique Frémeaux-Bacchi

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

James E Davison, Nigel P Davies, Martin Wilson, Yu Sun, Anupam Chakrapani, Patrick J McKiernan, John H Walter, P Gissen, Andrew C Peet

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

Maureen A Lefton-Greif, Thomas O Crawford, Sharon McGrath-Morrow, Kathryn A Carson, Howard M Lederman

Congenital neutropenia: diagnosis, molecular bases and patient management

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine Chantelot

Epithelial thymic tumours in paediatric age: a report from the TREP project

Elena Carretto, Alessandro Inserra, Andrea Ferrari, Massimo Conte, Andrea Di Cataldo, Roberta Migliorati, Giovanni Cecchetto, Gianni Bisogno

Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen

Ines Paule, Hind Sassi, Anoosha Habibi, Kim PD Pham, Dora Bachir, Frédéric Galactéros, Pascal Girard, Anne Hulin, Michel Tod

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Nathaniel Whaley, Shinsuke Fujioka, Zbigniew K Wszolek

Machado-Joseph Disease: from first descriptions to new perspectives

Concei？？o Bettencourt, Manuela Lima

Reducing selection bias in case-control studies from rare disease registries

J Alexander Cole, John S Taylor, Thomas N Hangartner, Neal J Weinreb, Pramod K Mistry, Aneal Khan

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Alessandro Ferraris, Eva Germanò, Serena Micheletti, Mariasavina Severino, Laura Bernardini, Sara Loddo, Gaetano Tortorella, Francesca Ormitti, Roberto Gasparotti, the CBCD Study Group, Andrea Rossi, Enza Valente

Lack of a synergistic effect of a non-viral ALS gene therapy based on BDNF and a TTC fusion molecule

Ana C Calvo, María Moreno-Igoa, Renzo Mancuso, Raquel Manzano, Sara Oliván, María J Mu？oz, Clara Penas, Pilar Zaragoza, Xavier Navarro, Rosario Osta

Correction: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, Amalia Sertedaki, Talia Kakourou, Solaf Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Natalia Mejia-Gaviria, Helena Gil-Pe？a, Eliecer Coto, Teresa M Pérez-Menéndez, Fernando Santos

Diagnosis and mortality in 47,XYY persons: a registry study

Kirstine Stochholm, Svend Juul, Claus H Gravholt

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

Inherited epidermolysis bullosa

Jo-David Fine

Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism

Laurence Amar, Pierre-Fran？ois Plouin, Olivier Steichen

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

Rothmund-Thomson syndrome

Lidia Larizza, Gaia Roversi, Ludovica Volpi

Beta-thalassemia

Renzo Galanello, Raffaella Origa

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia

Hilbert Grievink, Kathryn M Stowell

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Johann B？hm, Ulu？ Yi？, Rag？p Orta？, Handan ？akmak？？, Semra Kurul, Eray Dirik, Jocelyn Laporte

Toxic epidermal necrolysis and Stevens-Johnson syndrome

Thomas Harr, Lars E French

The Schnitzler syndrome

Dan Lipsker

Mucopolysaccharidosis VI

Vassili Valayannopoulos, Helen Nicely, Paul Harmatz, Sean Turbeville

A review of trisomy X (47,XXX)

Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson

Niemann-Pick disease type C

Marie T Vanier

Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis

Serena Poala, Gianni Bisogno, Raffaella Colombatti

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

Joubert Syndrome and related disorders

Francesco Brancati, Bruno Dallapiccola, Enza Valente

Silver-Russell syndrome: genetic basis and molecular genetic testing

Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler

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

Congenital hypothyroidism

Maynika V Rastogi, Stephen H LaFranchi

In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

Amelia Barilli, Bianca Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Ruzza, Maurizio Luisetti, Valeria Dall'Asta

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

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

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, Jér？me Honnorat

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

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 Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

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

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