Volume 7, issue 1, December 2012
103 articles in this issue
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Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study
Authors (first, second and last of 8)
- Timothy M Cox
- Dominick Amato
- for the Miglustat Maintenance Study Group
- Content type: Research
- Open Access
- Published: 27 December 2012
- Article: 102
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Number of rare germline CNVs and TP53 mutation types
Authors (first, second and last of 5)
- Amanda G Silva
- Maria Isabel Waddington Achatz
- Carla Rosenberg
- Content type: Research
- Open Access
- Published: 21 December 2012
- Article: 101
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Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis
Authors (first, second and last of 13)
- Xiao-dan Yao
- Xin Chen
- Zhi-hong Liu
- Content type: Research
- Open Access
- Published: 21 December 2012
- Article: 100
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KL-6, a Human MUC1 Mucin, as a prognostic marker for diffuse alveolar hemorrhage syndrome
Authors (first, second and last of 15)
- Yoshiko Kida
- Shinichiro Ohshimo
- Koichi Tanigawa
- Content type: Research
- Open Access
- Published: 17 December 2012
- Article: 99
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Erratum to: anorectal malformations
Authors
- Marc A Levitt
- Alberto Peña
- Content type: Erratum
- Open Access
- Published: 15 December 2012
- Article: 98
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Advanced therapies for the treatment of hemophilia: future perspectives
Authors
- Antonio Liras
- Cristina Segovia
- Aline S Gabán
- Content type: Review
- Open Access
- Published: 13 December 2012
- Article: 97
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
Authors (first, second and last of 31)
- David Cheillan
- Marie Joncquel-Chevalier Curt
- Joseph Vamecq
- Content type: Research
- Open Access
- Published: 13 December 2012
- Article: 96
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Amyloidosis cutis dyschromica
Authors
- Jianjun Qiao
- Hong Fang
- Hongtian Yao
- Content type: Research
- Open Access
- Published: 12 December 2012
- Article: 95
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COG5-CDG: expanding the clinical spectrum
Authors (first, second and last of 12)
- Daisy Rymen
- Liesbeth Keldermans
- Jaak Jaeken
- Content type: Research
- Open Access
- Published: 10 December 2012
- Article: 94
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Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services
Authors (first, second and last of 9)
- Mette C Tollånes
- Aasne K Aarsand
- On behalf of the European Porphyria Network (EPNET)
- Content type: Research
- Open Access
- Published: 10 December 2012
- Article: 93
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Early presentation of gait impairment in Wolfram Syndrome
Authors (first, second and last of 7)
- Kristen A Pickett
- Ryan P Duncan
- And the Washington University Wolfram Study Group
- Content type: Research
- Open Access
- Published: 08 December 2012
- Article: 92
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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
Authors (first, second and last of 12)
- Dominique P Germain
- Roberto Giugliani
- Pol F Boudes
- Content type: Research
- Open Access
- Published: 24 November 2012
- Article: 91
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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Authors (first, second and last of 15)
- Hugh J McMillan
- Thea Worthylake
- Kym M Boycott
- Content type: Research
- Open Access
- Published: 22 November 2012
- Article: 90
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Reliability and validity of the Wolfram Unified Rating Scale (WURS)
Authors (first, second and last of 9)
- Chau Nguyen
- Erin R Foster
- Washington University Wolfram Study Group
- Content type: Research
- Open Access
- Published: 14 November 2012
- Article: 89
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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
Authors (first, second and last of 16)
- Nadine AME van der Beek
- Juna M de Vries
- Pieter A van Doorn
- Content type: Research
- Open Access
- Published: 12 November 2012
- Article: 88
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Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial
Authors (first, second and last of 7)
- Cristina Cabrera-López
- Teresa MartÃ
- Roser Torra
- Content type: Research
- Open Access
- Published: 11 November 2012
- Article: 87
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Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature
Authors (first, second and last of 8)
- Catharina Whybra
- Eugen Mengel
- Eva Mildenberger
- Content type: Research
- Open Access
- Published: 08 November 2012
- Article: 86
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Monitoring access to nationally commissioned services in England
Authors (first, second and last of 4)
- Suzanne Coles
- Kate Haire
- Edmund G Jessop
- Content type: Research
- Open Access
- Published: 30 October 2012
- Article: 85
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Hearing impairment in Stickler syndrome: a systematic review
Authors (first, second and last of 4)
- Frederic R E Acke
- Ingeborg J M Dhooge
- Els M R De Leenheer
- Content type: Review
- Open Access
- Published: 30 October 2012
- Article: 84
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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Authors (first, second and last of 6)
- Annet M Bosch
- Kevin Stroek
- Ronald JA Wanders
- Content type: Review
- Open Access
- Published: 29 October 2012
- Article: 83
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Authors (first, second and last of 23)
- Jonàs Juan-Mateu
- Maria José RodrÃguez
- Pia Gallano
- Content type: Research
- Open Access
- Published: 23 October 2012
- Article: 82
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The trisomy 18 syndrome
Authors
- Anna Cereda
- John C Carey
- Content type: Review
- Open Access
- Published: 23 October 2012
- Article: 81
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An epidemiological and clinical analysis of craniomaxillofacial fibrous dysplasia in a Chinese population
Authors (first, second and last of 8)
- Jie Cheng
- Yanling Wang
- Guofang Shen
- Content type: Research
- Open Access
- Published: 17 October 2012
- Article: 80
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Genetic testing in diffuse parenchymal lung disease
Authors (first, second and last of 4)
- Paolo Spagnolo
- Fabrizio Luppi
- Luca Richeldi
- Content type: Review
- Open Access
- Published: 17 October 2012
- Article: 79
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Authors (first, second and last of 12)
- Jean-François Papon
- Laurence Bassinet
- Bruno Louis
- Content type: Research
- Open Access
- Published: 11 October 2012
- Article: 78
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The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
Authors (first, second and last of 26)
- Jérôme Stirnemann
- Marie Vigan
- Nadia Belmatoug
- Content type: Research
- Open Access
- Published: 09 October 2012
- Article: 77
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Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Authors (first, second and last of 6)
- Mark Walterfang
- Yin-Hsiu Chien
- Marc C Patterson
- Content type: Research
- Open Access
- Published: 06 October 2012
- Article: 76
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Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1
Authors (first, second and last of 8)
- Rosa Nguyen
- Eva Dombi
- Victor-Felix Mautner
- Content type: Research
- Open Access
- Published: 04 October 2012
- Article: 75
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Paying for the Orphan Drug System: break or bend? Is it time for a new evaluation system for payers in Europe to take account of new rare disease treatments?
Authors (first, second and last of 4)
- Wills Hughes-Wilson
- Ana Palma
- Steven Simoens
- Content type: Research
- Open Access
- Published: 26 September 2012
- Article: 74
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
Authors (first, second and last of 16)
- Juna M de Vries
- Nadine AME van der Beek
- Ans T van der Ploeg
- Content type: Research
- Open Access
- Published: 26 September 2012
- Article: 73
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Toxic epidermal necrolysis, DRESS, AGEP: Do overlap cases exist?
Authors (first, second and last of 8)
- Sophie Bouvresse
- Laurence Valeyrie-Allanore
- Jean-Claude Roujeau
- Content type: Research
- Open Access
- Published: 25 September 2012
- Article: 72
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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
Authors (first, second and last of 20)
- Sarah Beaussant Cohen
- Odile Fenneteau
- Jean Donadieu
- Content type: Research
- Open Access
- Published: 25 September 2012
- Article: 71
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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Authors (first, second and last of 47)
- Marie Morimoto
- Zhongxin Yu
- Cornelius F Boerkoel
- Content type: Research
- Open Access
- Published: 22 September 2012
- Article: 70
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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Authors (first, second and last of 8)
- Andreas Ohlenbusch
- Simon Edvardson
- Knut Brockmann
- Content type: Research
- Open Access
- Published: 20 September 2012
- Article: 69
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Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management
Authors
- Pilar L Magoulas
- Ayman W El-Hattab
- Content type: Review
- Open Access
- Published: 18 September 2012
- Article: 68
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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Authors (first, second and last of 11)
- Lijia Huang
- Jodi Warman-Chardon
- Kym M Boycott
- Content type: Research
- Open Access
- Published: 17 September 2012
- Article: 67
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An international registry for neurodegeneration with brain iron accumulation
Authors (first, second and last of 7)
- Bernadette Kalman
- Ronald Lautenschlaeger
- Klaus A Kuhn
- Content type: Letter to the Editor
- Open Access
- Published: 17 September 2012
- Article: 66
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Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study
Authors (first, second and last of 19)
- Nadine Zwink
- Ekkehart Jenetzky
- CURE-Net Consortium
- Content type: Research
- Open Access
- Published: 15 September 2012
- Article: 65
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Reference percentiles for FEV1 and BMI in European children and adults with cystic fibrosis
Authors (first, second and last of 16)
- Pierre-Yves Boëlle
- Laura Viviani
- Harriet Corvol
- Content type: Research
- Open Access
- Published: 07 September 2012
- Article: 64
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The rare disease challenge and how to promote a productive rare disease community: Case study of Birt-Hogg-Dubé Symposia
Authors
- Vicki L Colledge
- John Solly
- Content type: Letter to the Editor
- Open Access
- Published: 05 September 2012
- Article: 63
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Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
Authors (first, second and last of 10)
- Emilie Sbidian
- Smaïl Hadj-Rabia
- Sylvie Bastuji-Garin
- Content type: Research
- Open Access
- Published: 03 September 2012
- Article: 62
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Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
Authors (first, second and last of 12)
- Mahesh Kappanayil
- Sheela Nampoothiri
- Anne De Paepe
- Content type: Research
- Open Access
- Published: 03 September 2012
- Article: 61
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Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families
Authors (first, second and last of 7)
- Jeong-In Baek
- Se-Kyung Oh
- Sang-Heun Lee
- Content type: Research
- Open Access
- Published: 03 September 2012
- Article: 60
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Authors (first, second and last of 11)
- Tobias Eisenberger
- Rima Slim
- Hanno Jörn Bolz
- Content type: Research
- Open Access
- Published: 02 September 2012
- Article: 59
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Rescue of nonsense mutations by amlexanox in human cells
Authors (first, second and last of 10)
- Sara Gonzalez-Hilarion
- Terence Beghyn
- Fabrice Lejeune
- Content type: Research
- Open Access
- Published: 31 August 2012
- Article: 58
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Uveitis- a rare disease often associated with systemic diseases and infections- a systematic review of 2619 patients
Authors (first, second and last of 6)
- Talin Barisani-Asenbauer
- Saskia M Maca
- Herbert Auer
- Content type: Research
- Open Access
- Published: 29 August 2012
- Article: 57
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Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Authors (first, second and last of 5)
- Stephan M Tanner
- Amy C Sturm
- Albert de la Chapelle
- Content type: Research
- Open Access
- Published: 28 August 2012
- Article: 56
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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012
Authors (first, second and last of 7)
- Yazhou Cui
- Heng Zhao
- Jinxiang Han
- Content type: Review
- Open Access
- Published: 22 August 2012
- Article: 55
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AL Amyloidosis
Authors (first, second and last of 15)
- Estelle Desport
- Frank Bridoux
- Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
- Content type: Review
- Open Access
- Published: 21 August 2012
- Article: 54