Volume 8, issue 1, December 2013
199 articles in this issue
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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
Authors (first, second and last of 14)
- Mathilde Nizon
- Chris Ottolenghi
- Pascale de Lonlay
- Content type: Research
- Open Access
- Published: 23 September 2013
- Article: 148
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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Authors (first, second and last of 10)
- Shuan-Pei Lin
- Hsiang-Yu Lin
- Chih-Kuang Chuang
- Content type: Research
- Open Access
- Published: 22 September 2013
- Article: 147
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
Authors (first, second and last of 15)
- Johanna Christina Czeschik
- Peter Bauer
- Alma Kuechler
- Content type: Research
- Open Access
- Published: 21 September 2013
- Article: 146
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Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva
Authors (first, second and last of 8)
- Francesca Giacopelli
- Serena Cappato
- Renata Bocciardi
- Content type: Research
- Open Access
- Published: 18 September 2013
- Article: 145
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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks
Authors (first, second and last of 6)
- Michaela Trilck
- Rayk Hübner
- Moritz J Frech
- Content type: Research
- Open Access
- Published: 18 September 2013
- Article: 144
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Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area
Authors (first, second and last of 13)
- Mohamad H Qari
- Yasser Wali
- Shaker A Mousa
- Content type: Review
- Open Access
- Published: 17 September 2013
- Article: 143
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ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitroresponses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11β-hydroxylase
Authors (first, second and last of 13)
- Johannes Hofland
- Leo J Hofland
- Richard A Feelders
- Content type: Research
- Open Access
- Published: 13 September 2013
- Article: 142
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Brachydactyly E: isolated or as a feature of a syndrome
Authors (first, second and last of 7)
- Arrate Pereda
- Intza Garin
- Guiomar Perez de Nanclares
- Content type: Review
- Open Access
- Published: 12 September 2013
- Article: 141
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Unfolded protein response in Gaucher disease: from human to Drosophila
Authors (first, second and last of 6)
- Gali Maor
- Sigal Rencus-Lazar
- Mia Horowitz
- Content type: Research
- Open Access
- Published: 11 September 2013
- Article: 140
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Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry
Authors (first, second and last of 9)
- Hugh Tilson
- Paola Primatesta
- Ulrich A Walker
- Content type: Research
- Open Access
- Published: 10 September 2013
- Article: 139
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Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
Authors (first, second and last of 6)
- Kevin Berendse
- Merel S Ebberink
- Hans R Waterham
- Content type: Research
- Open Access
- Published: 09 September 2013
- Article: 138
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Erdheim-Chester Disease: a comprehensive review of the literature
Authors
- Roei D Mazor
- Mirra Manevich-Mazor
- Yehuda Shoenfeld
- Content type: Review
- Open Access
- Published: 08 September 2013
- Article: 137
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Associated factors and comorbidities in patients with pyoderma gangrenosum in Germany: a retrospective multicentric analysis in 259 patients
Authors (first, second and last of 21)
- Philipp Al Ghazal
- Katharina Herberger
- Joachim Dissemond
- Content type: Research
- Open Access
- Published: 08 September 2013
- Article: 136
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The legal imperative for treating rare disorders
Authors (first, second and last of 4)
- Hanna I Hyry
- Jonathan CP Roos
- Timothy M Cox
- Content type: Research
- Open Access
- Published: 06 September 2013
- Article: 135
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Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
Authors (first, second and last of 9)
- Sandra Jester
- Julia Larsson
- Ingrid Øra
- Content type: Research
- Open Access
- Published: 05 September 2013
- Article: 134
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Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
Authors (first, second and last of 7)
- Martijn J de Groot
- Marieke Hoeksma
- Francjan J van Spronsen
- Content type: Research
- Open Access
- Published: 04 September 2013
- Article: 133
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Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
Authors (first, second and last of 8)
- Marilina Tampoia
- Domenico Bonamonte
- Giuseppina Annicchiarico
- Content type: Research
- Open Access
- Published: 04 September 2013
- Article: 132
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Glanders: an overview of infection in humans
Authors
- Kristopher E Van Zandt
- Marek T Greer
- H Carl Gelhaus
- Content type: Review
- Open Access
- Published: 03 September 2013
- Article: 131
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FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation
Authors (first, second and last of 11)
- Guillaume Lezmi
- Virginie Verkarre
- Christophe Delacourt
- Content type: Research
- Open Access
- Published: 03 September 2013
- Article: 130
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Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Authors (first, second and last of 13)
- Mirella Filocamo
- Chiara Baldo
- for Telethon Network of Genetic Biobanks Staff
- Content type: Research
- Open Access
- Published: 30 August 2013
- Article: 129
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Aetiology of biliary atresia: what is actually known?
Authors
- Claus Petersen
- Mark Davenport
- Content type: Review
- Open Access
- Published: 29 August 2013
- Article: 128
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Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review
Authors (first, second and last of 8)
- Ouidad Zehou
- Elizabeth Fabre
- Laurence Valeyrie-Allanore
- Content type: Research
- Open Access
- Published: 23 August 2013
- Article: 127
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A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder
Authors (first, second and last of 9)
- Piya Lahiry
- Lemuel Racacho
- Robert A Hegele
- Content type: Research
- Open Access
- Published: 17 August 2013
- Article: 126
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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
Authors (first, second and last of 8)
- Maria Sandbacka
- Hannele Laivuori
- Kristiina Aittomäki
- Content type: Research
- Open Access
- Published: 16 August 2013
- Article: 125
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Systematic review of available evidence on 11 high-priced inpatient orphan drugs
Authors (first, second and last of 4)
- Tim A Kanters
- Caroline de Sonneville-Koedoot
- Leona Hakkaart
- Content type: Research
- Open Access
- Published: 16 August 2013
- Article: 124
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SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
Authors (first, second and last of 12)
- Lorenzo Nanetti
- Simona Cavalieri
- Caterina Mariotti
- Content type: Research
- Open Access
- Published: 14 August 2013
- Article: 123
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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
Authors (first, second and last of 8)
- Heather B Steele-Stallard
- Polona Le Quesne Stabej
- Maria Bitner-Glindzicz
- Content type: Research
- Open Access
- Published: 08 August 2013
- Article: 122
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Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children
Authors (first, second and last of 7)
- Matthias Griese
- Melanie Haug
- the National EAA Study Group
- Content type: Research
- Open Access
- Published: 08 August 2013
- Article: 121
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Erratum to: COG5-CDG: expanding the clinical spectrum
Authors (first, second and last of 12)
- Daisy Rymen
- Liesbeth Keldermans
- Jaak Jaeken
- Content type: Erratum
- Open Access
- Published: 14 August 2013
- Article: 120
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A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
Authors (first, second and last of 13)
- Birgit Knebel
- Jorg Kotzka
- Dirk Muller-Wieland
- Content type: Research
- Open Access
- Published: 07 August 2013
- Article: 119
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Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial
Authors (first, second and last of 12)
- Bjorn WH van Heumen
- Hennie MJ Roelofs
- Fokko M Nagengast,
- Content type: Research
- Open Access
- Published: 06 August 2013
- Article: 118
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Genotype-phenotype correlations in recessive RYR1-related myopathies
Authors (first, second and last of 13)
- Kimberly Amburgey
- Angela Bailey
- James J Dowling
- Content type: Research
- Open Access
- Published: 06 August 2013
- Article: 117
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Fibrosis: a key feature of Fabry disease with potential therapeutic implications
Authors (first, second and last of 7)
- Frank Weidemann
- Maria D Sanchez-Niño
- Alberto Ortiz
- Content type: Review
- Open Access
- Published: 06 August 2013
- Article: 116
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Highly aggressive pathology of non-functional parathyroid carcinoma
Authors (first, second and last of 5)
- Doina Piciu
- Alexandru Irimie
- Rares Buiga
- Content type: Letter to the Editor
- Open Access
- Published: 03 August 2013
- Article: 115
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Galactosialidosis: review and analysis of CTSA gene mutations
Authors (first, second and last of 11)
- Anna Caciotti
- Serena Catarzi
- Amelia Morrone
- Content type: Research
- Open Access
- Published: 02 August 2013
- Article: 114
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Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study
Authors (first, second and last of 4)
- Helene Dufresne
- Smail Hadj-Rabia
- Christine Bodemer
- Content type: Research
- Open Access
- Published: 01 August 2013
- Article: 113
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Comprehensive characterization of malignant phyllodes tumor by whole genomic and proteomic analysis: biological implications for targeted therapy opportunities
Authors
- Denis L Fontes Jardim
- Anthony Conley
- Vivek Subbiah
- Content type: Research
- Open Access
- Published: 30 July 2013
- Article: 112
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Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Authors (first, second and last of 4)
- Marco Cammisa
- Antonella Correra
- Maria Vittoria Cubellis
- Content type: Letter to the Editor
- Open Access
- Published: 24 July 2013
- Article: 111
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Authors (first, second and last of 24)
- Claudia Voigt
- André Mégarbané
- Dagmar Wieczorek
- Content type: Research
- Open Access
- Published: 24 July 2013
- Article: 110
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Sustainable rare diseases business and drug access: no time for misconceptions
Authors
- Pierrick Rollet
- Adrien Lemoine
- Marc Dunoyer
- Content type: Review
- Open Access
- Published: 23 July 2013
- Article: 109
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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient
Authors (first, second and last of 4)
- Taimoor I Sheikh
- Kirti Mittal
- John B Vincent
- Content type: Research
- Open Access
- Published: 19 July 2013
- Article: 108
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Fertility preservation in female classic galactosemia patients
Authors (first, second and last of 12)
- Britt van Erven
- Cynthia S Gubbels
- M Estela Rubio-Gozalbo
- Content type: Review
- Open Access
- Published: 16 July 2013
- Article: 107
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
Authors (first, second and last of 14)
- Bruno Donadille
- Pascal D’Anella
- Corinne Vigouroux
- Content type: Research
- Open Access
- Published: 12 July 2013
- Article: 106
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A core microbiome associated with the peritoneal tumors of pseudomyxoma peritonei
Authors (first, second and last of 14)
- Jeremy J Gilbreath
- Cristina Semino-Mora
- D Scott Merrell
- Content type: Research
- Open Access
- Published: 12 July 2013
- Article: 105
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Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Authors (first, second and last of 12)
- Hyeon Jin Kim
- Young Bin Hong
- Byung-Ok Choi
- Content type: Research
- Open Access
- Published: 12 July 2013
- Article: 104
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Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype
Authors (first, second and last of 13)
- Karen Anjema
- Margreet van Rijn
- Francjan J van Spronsen
- Content type: Research
- Open Access
- Published: 10 July 2013
- Article: 103
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Authors (first, second and last of 14)
- Maria Luz Couce
- Paula Sánchez-Pintos
- Hugo Rocha
- Content type: Research
- Open Access
- Published: 10 July 2013
- Article: 102
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The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life
Authors (first, second and last of 5)
- Mireia Raluy-Callado
- Wen-Hung Chen
- Ingela Wiklund
- Content type: Research
- Open Access
- Published: 10 July 2013
- Article: 101
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Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Authors (first, second and last of 14)
- Jiadi Wen
- Fátima Lopes
- Evica Rajcan-Separovic
- Content type: Research
- Open Access
- Published: 10 July 2013
- Article: 100