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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Barth syndrome

Clarke Sarah LN,Bowron Ann,Gonzalez Iris L,Groves Sarah J

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Fujioka Shinsuke,Sundal Christina,Wszolek Zbigniew K

Malignant atrophic papulosis (K hlmeier-Degos disease) - A review

Theodoridis Athanasios,Makrantonaki Evgenia,Zouboulis Christos C

Systematic review of central nervous system anomalies in incontinentia pigmenti

Mini？ Sne？ana,Trpinac Du？an,Obradovi？ Miljana

Syndromic diarrhea/Tricho-hepato-enteric syndrome

Fabre Alexandre,Martinez-Vinson Christine,Goulet Olivier,Badens Catherine

Passive transfer of collagen XVII-specific antibodies induces sustained blistering disease in adult mice

Chiriac Mircea Teodor,Licarete Emilia,Sas Alexandra Gabriela,Rados Andreea Maria

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

Jafari Paris,Braissant Olivier,Zavadakova Petra,Henry Hugues

MicroRNAs at the human 14q32 locus have prognostic significance in osteosarcoma

Sarver Aaron L,Thayanithy Venugopal,Scott Milcah C,Cleton-Jansen Anne-Marie

Brain involvement in Alstr m syndrome

Citton Valentina,Favaro Angela,Bettini Vera,Gabrieli Joseph

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

Sampson Heidi M,Lam Hung,Chen Pei-Chun,Zhang Donglei

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Ando Yukio,Coelho Teresa,Berk John L,Cruz Márcia Waddington

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Luscieti Sara,Tolle Gabriele,Aranda Jessica,Campos Carmen Benet

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Haugarvoll Kristoffer,Johansson Stefan,Tzoulis Charalampos,Haukanes Bj？rn Ivar

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Peluso Ivana,Conte Ivan,Testa Francesco,Dharmalingam Gopuraja

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Barbaro Michela,Kotaj？rvi Maire,Harper Pauline,Floderus Ylva

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Patterson Marc C,Mengel Eugen,Wijburg Frits A,Muller Audrey

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Grünert Sarah C,Müllerleile Stephanie,De Silva Linda,Barth Michael

A diverse array of genetic factors contribute to the pathogenesis of Systemic Lupus Erythematosus

Tiffin Nicki,Adeyemo Adebowale,Okpechi Ikechi

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Zhang Huiwen,Wang Yu,Gong Zhuwen,Li Xiaoyan

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Santorelli Filippo Maria,Garavaglia Barbara,Cardona Francesco,Nardocci Nardo

Clinical pathways for inborn errors of metabolism: warranted and feasible

Demirdas Serwet,van Kessel Imke N,Korndewal Marjolein J,Hollak Carla EM

Neuro-Beh et’s disease in childhood: A focus on the neuro-ophthalmological features

Mora Paolo,Menozzi Chiara,Orsoni Jelka G,Rubino Pierangela

Recommendations for the management of tyrosinaemia type 1

de Laet Corinne,Dionisi-Vici Carlo,Leonard James V,McKiernan Patrick

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, Brigitte Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, Fran？ois Labarthe, Hélène Maurey, Jean-Marie Cuisset, Thierry Billette de Villemeur, Frederic Sedel, Marie Vanier

Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta

Taro Muto, Keiko Miyoshi, Taigo Horiguchi, Hiroko Hagita, Takafumi Noma

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

Paola Pierucci, Gennaro M Lenato, Patrizia Suppressa, Patrizia Lastella, Vincenzo Triggiani, Raffaella Valerio, Mario Comelli, Daniela Salvante, Alessandro Stella, Nicoletta Resta, Giancarlo Logroscino, Francesco Resta, Carlo Sabbà

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Sarah C Grünert, Martin Stucki, Raphael J Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan K？lker, Dorothea M？slinger, Elisabetta Pasquini, René Santer, K Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W Yue, Matthias R Baumgartner

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Catharina ML Touw, G. Peter A Smit, Maaike de Vries, Johannis BC de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M. Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald JA Wanders, Hans R Waterham, Dirk-Jan Reijngoud, Terry GJ Derks

Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency

Rembert Koczulla, Danny Jonigk, Thomas Wolf, Christian Herr, Sarah Noeske, Walter Klepetko, Claus Vogelmeier, Nils von Neuhoff, Johanna Rische, Sabine Wrenger, Heiko Golpon, Robert Voswinckel, Maurizio Luisetti, Ilaria Ferrarotti, Tobias Welte, Sabina Janciauskiene

Hypoglycaemia related to inherited metabolic diseases in adults

Claire Douillard, Karine Mention, Dries Dobbelaere, Jean-Louis Wemeau, Jean-Marie Saudubray, Marie-Christine Vantyghem

Past, present and future of hemophilia: a narrative review

Massimo Franchini, Pier M Mannucci

Suggested guidelines for the diagnosis and management of urea cycle disorders

Johannes Haeberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Valayannopoulos, Martin Lindner, Vicente Rubio, Carlo Dionisi-Vici

Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine

Filipa Ponte, Rosa Sousa, Ana P Fernandes, Cristina Goncalves, Jose Barbot, Felix Carvalho, Beatriz Porto

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer

Gastric lactobezoar - a rare disorder?

Peter Heinz-Erian, Ingmar Gassner, Andreas Klein-Franke, Veronika Jud, Rudolf Trawoeger, Christian Niederwanger, Thomas Mueller, Bernhard Meister, Sabine Scholl-Buergi

Beh？et's disease

David Saadoun, Bertrand Wechsler

Cystinuria: an inborn cause of urolithiasis

Thomas Eggermann, Andreas Venghaus, Klaus Zerres

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

Amanda J Heslegrave, Ritika R Kapoor, Simon Eaton, Bernadette Chadefaux, Teoman Ackay, Enver Simsek, Sarah E Flanagan, Sian Ellard, Khalid Hussain

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman, Frits A Wijburg

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Llu？sa Vilageliu, Daniel Grinberg, Clara M Sá Miranda, Miguel Pocovi

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Bassam R Ali, Jennifer L. Silhavy, Nadia A Akawi, Joseph G. Gleeson, Lihadh Al-Gazali

Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management

Emma Hansson, Henry Svensson, H？kan Brorson

A generalizable pre-clinical research approach for orphan disease therapy

Chandree L Beaulieu, Mark E Samuels, Sean Ekins, Christopher R McMaster, Aled M Edwards, Adrian R Krainer, Geoffrey G Hicks, Brendan J Frey, Kym M Boycott, Alex E MacKenzie

Cushing’s disease

Frederic Castinetti, Isabelle Morange, Bernard Conte-Devolx, Thierry Brue

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini, Giovanni Cioni

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

Alice K Tanner, Ephrem LH Chin, Patricia K Duffner, Madhuri Hegde

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