Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic chara... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 17, 2017 Category: Internal Medicine Authors: Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song and Dong-Kyu Jin Source Type: research

Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs
Since the introduction of the orphan drugs legislation in Europe, it has been suggested that the general method of assessing drugs for reimbursement is not necessarily suitable for orphan drugs. The National I... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 17, 2017 Category: Internal Medicine Authors: C. Schey, P. F. M. Krabbe, M. J. Postma and M. P. Connolly Source Type: research

Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects
Lucerastat, an inhibitor of glucosylceramide synthase, has the potential to restore the balance between synthesis and degradation of glycosphingolipids in glycolipid storage disorders such as Gaucher disease a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 14, 2017 Category: Internal Medicine Authors: N. Gu érard, O. Morand and J. Dingemanse Source Type: research

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules
Anaphylaxis is defined as a severe life-threatening generalized or systemic hypersensitivity reaction. The difficulty of coding anaphylaxis fatalities under the World Health Organization (WHO) International Cl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 13, 2017 Category: Internal Medicine Authors: Luciana Kase Tanno, F. Estelle R. Simons, Isabella Annesi-Maesano, Moises A. Calderon, S égolène Aymé and Pascal Demoly Source Type: research

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 11, 2017 Category: Internal Medicine Authors: Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero and Catherine Lynn T. Silao Source Type: research

FOXN1 deficient nude severe combined immunodeficiency
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 11, 2017 Category: Internal Medicine Authors: Ioanna A. Rota and Fatima Dhalla Source Type: research

Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency
Hereditary angioedema caused by C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. C1-INH-HAE is characterized by edema –formation, which may occur in response to stress. The individua... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 10, 2017 Category: Internal Medicine Authors: Zsuzsanna Zotter, Zsolt Nagy, Attila Pat ócs, Dorottya Csuka, Nóra Veszeli, Kinga Viktória Kőhalmi and Henriette Farkas Source Type: research

Moebius sequence –a multidisciplinary clinical approach
Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 6, 2017 Category: Internal Medicine Authors: Line Kjeldgaard Pedersen, Rikke Damkj ær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen and John Rosendahl Østergaard Source Type: research

Ethical imperatives of timely access to orphan drugs: is possible to reconcile economic incentives and patients ’ health needs?
More than 6,800 rare diseases and conditions have been identified in the US, which affect 25 –30 million Americans. In 1983, the US Congress enacted the Orphan Drug Act (ODA) to encourage the development and ma... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 5, 2017 Category: Internal Medicine Authors: R. Rodriguez-Monguio, T. Spargo and E. Seoane-Vazquez Source Type: research

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review
The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically ch... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2016 Category: Internal Medicine Authors: Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi and Marco Gattorno Source Type: research

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature
Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2016 Category: Internal Medicine Authors: Steven T. Merrill, Gary R. Nelson, Nicola Longo and Joshua L. Bonkowsky Source Type: research

Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia
Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathol... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 5, 2016 Category: Internal Medicine Authors: Alexandre J. Vivanti, Anne-Gael Cordier, Genevi ève Baujat and Alexandra Benachi Source Type: research

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing littl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 1, 2016 Category: Internal Medicine Authors: Steven U. Walkley, Cristin D. Davidson, Jonathan Jacoby, Philip D. Marella, Elizabeth A. Ottinger, Christopher P. Austin, Forbes D. Porter, Charles H. Vite and Daniel S. Ory Source Type: research

Health technology assessment of drugs for rare diseases: insights, trends, and reasons for negative recommendations from the CADTH common drug review
A shift in biochemical research towards drugs for rare diseases has created new challenges for the pharmaceutical industry, government regulators, health technology assessment agencies, and public and private ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 1, 2016 Category: Internal Medicine Authors: Ghayath Janoudi, William Amegatse, Brendan McIntosh, Chander Sehgal and Trevor Richter Source Type: research

Aspartylglycosaminuria: a review
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 1, 2016 Category: Internal Medicine Authors: Maria Arvio and Ilkka Mononen Source Type: research

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia
Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 28, 2016 Category: Internal Medicine Authors: Lydia Forestier-Zhang, Laura Watts, Alison Turner, Harriet Teare, Jane Kaye, Joe Barrett, Cyrus Cooper, Richard Eastell, Paul Wordsworth, Muhammad K. Javaid and Rafael Pinedo-Villanueva Source Type: research

Ataxia telangiectasia: a review
Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is ofte... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 25, 2016 Category: Internal Medicine Authors: Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford and Howard M. Lederman Source Type: research

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6 –18 after normal pre- and postnatal development, los... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 25, 2016 Category: Internal Medicine Authors: Friederike Ehrhart, Susan L. M. Coort, Elisa Cirillo, Eric Smeets, Chris T. Evelo and Leopold M. G. Curfs Source Type: research

Symmetrical acrokeratoderma: a case series in Indian patients
In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patie... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2016 Category: Internal Medicine Authors: Keshavamurthy Vinay, Gitesh U. Sawatkar, Uma N. Saikia and Sunil Dogra Source Type: research

20-year follow-up study of Danish HHT patients —survival and causes of death
Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 22, 2016 Category: Internal Medicine Authors: Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen T ørring, Sören Möller and Anders Green Source Type: research

Current models of care for disorders of sex development – results from an International survey of specialist centres
To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and th... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 21, 2016 Category: Internal Medicine Authors: Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskj öld, Marta Rozas, Caroline Sanders, Olaf Hiort and S. Faisal Ahmed Source Type: research

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry
Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that co... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 21, 2016 Category: Internal Medicine Authors: Len Woodward, Sally Johnson, Johan Vande Walle, Joran Beck, Christoph Gasteyger, Christoph Licht and Gema Ariceta Source Type: research

Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-K üster-Hauser syndrome (MRKHS): a systematic literature review
In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2016 Category: Internal Medicine Authors: Anke Wagner, Sara Yvonne Brucker, Esther Ueding, Dagmar Gr öber-Grätz, Elisabeth Simoes, Katharina Rall, Andrea Kronenthaler, Norbert Schäffeler and Monika A. Rieger Source Type: research

Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial
Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2016 Category: Internal Medicine Authors: R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze and A. C. S. Hokken-Koelega Source Type: research

Insights into rare diseases from social media surveys
The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obt... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 9, 2016 Category: Internal Medicine Authors: William Davies Source Type: research

The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases
Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. Thi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 8, 2016 Category: Internal Medicine Authors: M. K. Javaid, L. Forestier-Zhang, L. Watts, A. Turner, C. Ponte, H. Teare, D. Gray, N. Gray, R. Popert, J. Hogg, J. Barrett, R. Pinedo-Villanueva, C. Cooper, R. Eastell, N. Bishop, R. Luqmani & hellip; Source Type: research

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiolo... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 8, 2016 Category: Internal Medicine Authors: Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato & hellip; Source Type: research

Gene expression profiles and protein-protein interaction networks in amyotrophic lateral sclerosis patients with C9orf72 mutation
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that involves the death of neurons. ALS is associated with many gene mutations as previously studied. In order to explore the molecular mechan... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 5, 2016 Category: Internal Medicine Authors: Meena Kumari Kotni, Mingzhu Zhao and Dong-Qing Wei Source Type: research

Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study
Epilepsy occurs in up to 90  % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 3, 2016 Category: Internal Medicine Authors: Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gr öppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone and Martha Feucht Source Type: research

Off-label use of orphan medicinal products: a Belgian qualitative study
Off-label use of (orphan) medicinal products for (rare) diseases is quite common but not underpinned by clinical studies to confirm efficacy and safety. No risk-analyses by regulatory agencies are carried out.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 28, 2016 Category: Internal Medicine Authors: Marc Dooms, David Cassiman and Steven Simoens Source Type: research

Childhood-onset granulomatosis with polyangiitis and microscopic polyangiitis: systematic review and meta-analysis
The data from cohorts of childhood-onset granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) remain scarce and heterogeneous. We aimed to analyse the features at presentation, therapeutic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 22, 2016 Category: Internal Medicine Authors: Michele Iudici, Pierre Quartier, Benjamin Terrier, Luc Mouthon, Lo ïc Guillevin and Xavier Puéchal Source Type: research

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 21, 2016 Category: Internal Medicine Authors: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali and Lihadh Al-Gazali Source Type: research

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 21, 2016 Category: Internal Medicine Authors: S. L ühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner and S. C. Grünert Source Type: research

Parents ’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)
Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherite... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 10, 2016 Category: Internal Medicine Authors: S. Somanadhan and P. J. Larkin Source Type: research

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 7, 2016 Category: Internal Medicine Authors: Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis and Lidia Larizza Source Type: research

DNA ligase IV syndrome; a review
DNA ligase IV deficiency is a rare primary immunodeficiency, LIG4 syndrome, often associated with other systemic features. DNA ligase IV is part of the non-homologous end joining mechanism, required to repair ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 7, 2016 Category: Internal Medicine Authors: Thomas Altmann and Andrew R. Gennery Source Type: research

The risks of overlooking the diagnosis of secreting pituitary adenomas
Secreting pituitary adenomas that cause acromegaly and Cushing ’s disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions me... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 6, 2016 Category: Internal Medicine Authors: Thierry Brue and Frederic Castinetti Source Type: research

Combined integrated protocol/basket trial design for a first-in-human trial
Innovative trial designs are sought to streamline drug development in rare diseases. Basket- and integrated protocol designs are two of these new strategies and have been applied in a handful oncologic trials.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - October 4, 2016 Category: Internal Medicine Authors: Ulla Derhaschnig, Jim Gilbert, Ulrich J äger, Georg Böhmig, Georg Stingl and Bernd Jilma Source Type: research

High attack frequency in patients with angioedema due to C1-inhibitor deficiency is a major determinant in switching to home therapy: a real-life observational study
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent attacks of swelling that affect various body sites. Such attacks are a frequent cause of visits to the emergency de... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2016 Category: Internal Medicine Authors: Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese and Gianni Marone Source Type: research

Rett syndrome: a wide clinical and autonomic picture
Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2016 Category: Internal Medicine Authors: G. Pini, S. Bigoni, L. Congiu, A. M. Romanelli, M. F. Scusa, P. Di Marco, A. Benincasa, P. Morescalchi, A. Ferlini, F. Bianchi, D. Tropea and M. Zappella Source Type: research

Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2016 Category: Internal Medicine Authors: Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski Source Type: research

Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a hig... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2016 Category: Internal Medicine Authors: Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof and Jessica Bohonowych Source Type: research

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 29, 2016 Category: Internal Medicine Authors: Rebecca Buchert, Addie I. Nesbitt, Hasan Tawamie, Ian D. Krantz, Livija Medne, Ingo Helbig, Dena R. Matalon, Andr é Reis, Avni Santani, Heinrich Sticht and Rami Abou Jamra Source Type: research

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial
Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/e... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 26, 2016 Category: Internal Medicine Authors: Nicol ás Roberto Robles, Ramón Peces, Álvaro Gómez-Ferrer, Felipe Villacampa, Jose Luis Álvarez-Ossorio, Pedro Pérez-Segura, Juan Morote, Bernardo Herrera-Imbroda, Javier Nieto, Joaquín Carballido, Urbano Anido, Marian Valero, Cristina Meseguer and Source Type: research

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes of hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear p... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 23, 2016 Category: Internal Medicine Authors: Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, Aline Cano, Dries Dobbelaere, Anais Brassier, Karine Mention, Jean-Baptiste Arnoux, Fran çois Feillet, Brigitte Chabrol, Nathalie Guffon, Caroline Elie and Pascale de Lonlay Source Type: research

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is consta... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 15, 2016 Category: Internal Medicine Authors: Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A. Alfares, Mohammed Al Balwi, Abdullah Alzaben and Wafaa Eyaid Source Type: research

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
Although the majority of small in-frame insertions/deletions (indels) has no/little affect on protein function, a small subset of these changes has been causally associated with genetic disorders. Notably, the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 14, 2016 Category: Internal Medicine Authors: Panagiotis I. Sergouniotis, Stephanie J. Barton, Sarah Waller, Rahat Perveen, Jamie M. Ellingford, Christopher Campbell, Georgina Hall, Rachel L. Gillespie, Sanjeev S. Bhaskar, Simon C. Ramsden, Graeme C. Black and Simon C. Lovell Source Type: research

Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study
Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 13, 2016 Category: Internal Medicine Authors: Justine Hugon-Rodin, G éraldine Lebègue, Stéphanie Becourt, Claude Hamonet and Anne Gompel Source Type: research

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU di... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 9, 2016 Category: Internal Medicine Authors: Mar ía L. Couce, Isidro Vitoria, Luís Aldámiz-Echevarría, Ana Fernández-Marmiesse, Iria Roca, Marta Llarena, Paula Sánchez-Pintos, Rosaura Leis and Alvaro Hermida Source Type: research

The correlation between HTA recommendations and reimbursement status of orphan drugs in Europe
The aim of this study was to review and compare types of reimbursement recommendations for orphan drugs issued by eight European health technology assessment (HTA) agencies and the reimbursement status of thes... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 6, 2016 Category: Internal Medicine Authors: Pawe ł Kawalec, Anna Sagan and Andrzej Pilc Source Type: research