The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study
Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. Patients with the diffuse disease variant often require near-total surgical removal of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 20, 2018 Category: Internal Medicine Authors: Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain and Richard Thompson Tags: Research Source Type: research

Acid ceramidase deficiency: Farber disease and SMA-PME
Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy with progr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 20, 2018 Category: Internal Medicine Authors: Fabian P. S. Yu, Samuel Amintas, Thierry Levade and Jeffrey A. Medin Tags: Review Source Type: research

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2018 Category: Internal Medicine Authors: Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes R ötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Bor Tags: Research Source Type: research

Anatomy of the ventricular septal defect in congenital heart defects: a random association?
A ventricular septal defect (VSD) is an integral part of most congenital heart defects (CHD). To determine the prevalence of VSD in various types of CHD and the distribution of their anatomic types. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 18, 2018 Category: Internal Medicine Authors: Meriem Mostefa-Kara, Lucile Houyel and Damien Bonnet Tags: Research Source Type: research

MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism
We aim to clarify some points that have been criticized about our previous paper “Hearing Impairment in MELAS: new prospective in clinical use of microRNA, a systematic review”. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 18, 2018 Category: Internal Medicine Authors: Arianna Di Stadio and Corrado Angelini Tags: Letter to the Editor Source Type: research

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 17, 2018 Category: Internal Medicine Authors: Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, R üdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin and Sascha Meyer Tags: Research Source Type: research

Childhood hypophosphatasia: to treat or not to treat
Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 16, 2018 Category: Internal Medicine Authors: Eric T. Rush Tags: Review Source Type: research

Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 13, 2018 Category: Internal Medicine Authors: Livia Savarese, Maria Bova, Raffaella De Falco, Maria Domenica Guarino, Raffaele De Luca Picione, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Matteo Zabotto, Andrea Zanichelli, Eugenio Zito, Maria Alessio, Mauro Cancian, Marco Cicardi, Adriana Tags: Research Source Type: research

Alpha-1 antitrypsin deficiency: outstanding questions and future directions
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 11, 2018 Category: Internal Medicine Authors: Mar ía Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francis Tags: Review Source Type: research

Transcriptome level analysis in Rett syndrome using human samples from different tissues
The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to unde... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 11, 2018 Category: Internal Medicine Authors: Stephen Shovlin and Daniela Tropea Tags: Review Source Type: research

Challenges of palliative care in children with inborn metabolic diseases
This study was conducted as single-centre retrospective cohort study ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 9, 2018 Category: Internal Medicine Authors: Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Jan ßen and Michaela Kuhlen Tags: Research Source Type: research

Molecular diagnosis of anti-laminin 332 (epiligrin) mucous membrane pemphigoid
Mucous membrane pemphigoid is a group of chronic subepithelial autoimmune blistering diseases that mainly affect mucous membranes. Laminin 332-specific autoantibodies are present in approximately 1/3 of the pa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 6, 2018 Category: Internal Medicine Authors: Roxana Chiorean, Sorina Danescu, Oana Virtic, Mayson B. Mustafa, Adrian Baican, Annette Lischka, Takashi Hashimoto, Yoshinobu Kariya, Manuel Koch and Cassian Sitaru Tags: Research Source Type: research

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitiv... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 5, 2018 Category: Internal Medicine Authors: Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J. Boado, Igor Nestrasil, Carol Nguyen, Steven Chen and William M. Pardridge Tags: Research Source Type: research

Comprehensive genetic characteristics of dystrophinopathies in China
Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 4, 2018 Category: Internal Medicine Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao Tags: Research Source Type: research

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study
Deficiency of phenylalanine hydroxylase causes phenylketonuria (PKU) with elevated phenylalanine (Phe) levels and associated neuropsychiatric and neurocognitive symptoms. Pegvaliase (PEGylated phenylalanine am... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 4, 2018 Category: Internal Medicine Authors: Nicola Longo, Roberto Zori, Melissa P. Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore and Janet A. Thomas Tags: Research Source Type: research

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies
RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2018 Category: Internal Medicine Authors: Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. B önnemann and Katherine G. Meilleur Tags: Research Source Type: research

Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases
Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease characterized by extracellular deposits of amyloid due to the autosomal dominant inheritance of a mutation in the TTR gene (18q12.1). A... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2018 Category: Internal Medicine Authors: Alejandra Gonz ález-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres and Carlos Cantú-Brito Tags: Research Source Type: research

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation with variable expressivity. SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 dupli... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2018 Category: Internal Medicine Authors: Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang and Xue Zhang Tags: Research Source Type: research

Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement because of small, geographically dispersed patient populations ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 28, 2018 Category: Internal Medicine Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu and Beth K. Potter Tags: Review Source Type: research

Carbohydrate status in patients with phenylketonuria
In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 27, 2018 Category: Internal Medicine Authors: Mar ía L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos and Rosaura Leis Tags: Research Source Type: research

Longitudinal hearing loss in Wolfram syndrome
Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing loss (SNHL). Alt... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 27, 2018 Category: Internal Medicine Authors: Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu and Tamara Hershey Tags: Research Source Type: research

Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis
Despite early and ongoing dietary management with a phe-restricted diet, suboptimal neuropsychological function has been observed in PKU. The restrictive nature of the PKU diet may expose patients to sub-optim... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 26, 2018 Category: Internal Medicine Authors: Gina A. Montoya Parra, Rani H. Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn and Anita MacDonald Tags: Research Source Type: research

Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis
The objective of this study is to evaluate by means of a systematic review, the efficacy of thymectomy as compared to medical treatment for non-thymomatous myasthenia gravis (MG). (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 25, 2018 Category: Internal Medicine Authors: Ant ônio J. M. Cataneo, Gilmar Felisberto Jr. and Daniele C. Cataneo Tags: Review Source Type: research

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review
Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted th... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 25, 2018 Category: Internal Medicine Authors: Salma Adham, Denis Trystram, Juliette Albuisson, Val érie Domigo, Anne Legrand, Xavier Jeunemaitre and Michael Frank Tags: Research Source Type: research

Increased extracellular matrix deposition during chondrogenic differentiation of dental pulp stem cells from individuals with neurofibromatosis type 1: an in vitro 2D and 3D study
Neurofibromatosis 1 (NF1) presents a wide range of clinical manifestations, including bone alterations. Studies that seek to understand cellular and molecular mechanisms underlying NF1 orthopedic problems are ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 25, 2018 Category: Internal Medicine Authors: Paula Nascimento Almeida, Deuilton do Nascimento Barboza, Elo á Borges Luna, Maria Clara de Macena Correia, Rhayra Braga Dias, Ana Caroline Siquara de Sousa, Maria Eugenia Leite Duarte, Maria Isabel Doria Rossi and Karin Soares Cunha Tags: Research Source Type: research

Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia
Homozygous familial hypercholesterolaemia (HoFH) is characterized by a markedly increased risk of premature cardiovascular (CV) events and cardiac death. Lomitapide reduces low-density lipoprotein cholesterol ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 20, 2018 Category: Internal Medicine Authors: Dirk J. Blom, Marina Cuchel, Miranda Ager and Helen Phillips Tags: Research Source Type: research

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid treatment. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 20, 2018 Category: Internal Medicine Authors: Anupam Chakrapani, Vassili Valayannopoulos, Nuria Garc ía Segarra, Mireia Del Toro, Maria Alice Donati, Angeles García-Cazorla, María Julieta González, Celine Plisson and Vincenzo Giordano Tags: Research Source Type: research

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract
Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 18, 2018 Category: Internal Medicine Authors: Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang and Lihua Cao Tags: Research Source Type: research

How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial
Demonstrating treatment benefits within clinical trials in the context of rare diseases is often methodologically and practically challenging. Mixed methods research offers an approach to overcome these challe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 18, 2018 Category: Internal Medicine Authors: Murtuza Bharmal, Isabelle Guillemin, Alexia Marrel, Benoit Arnould, J érémy Lambert, Meliessa Hennessy and Fatoumata Fofana Tags: Research Source Type: research

Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis
Exon skipping has been considered a promising therapeutic approach for Duchenne muscular dystrophy (DMD). Eteplirsen received conditional approval in the United States in 2016. To date, no systematic reviews o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 15, 2018 Category: Internal Medicine Authors: Yuko Shimizu-Motohashi, Terumi Murakami, En Kimura, Hirofumi Komaki and Norio Watanabe Tags: Research Source Type: research

What ’s new in pontocerebellar hypoplasia? An update on genes and subtypes
Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with varia... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 15, 2018 Category: Internal Medicine Authors: Tessa van Dijk, Frank Baas, Peter G. Barth and Bwee Tien Poll-The Tags: Review Source Type: research

Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema
Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare inherited disease. In most HAE-affected subjects, defined trigger factors precede angioedema attacks. Mechanisms of how trigger factors... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 5, 2018 Category: Internal Medicine Authors: Urs C. Steiner, Lea K ölliker, Christina Weber-Chrysochoou, Peter Schmid-Grendelmeier, Elsbeth Probst, Walter A. Wuillemin and Arthur Helbling Tags: Research Source Type: research

Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer ’s dementia
Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 5, 2018 Category: Internal Medicine Authors: Andreas Johnen, Matthias Pawlowski and Thomas Duning Tags: Research Source Type: research

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)
Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical hi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 4, 2018 Category: Internal Medicine Authors: Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin and Shuan-Pei Lin Tags: Research Source Type: research

Retinal and optic nerve degeneration in α-mannosidosis
α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. Typical symptoms include intellectual, motor and hearing impairment, facial coarsening,... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 1, 2018 Category: Internal Medicine Authors: Juliane Matlach, Thea Zindel, Yasmina Amraoui, Laila Arash-Kaps, Julia B. Hennermann and Susanne Pitz Tags: Research Source Type: research

MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 31, 2018 Category: Internal Medicine Authors: Josef Finsterer and Sinda Zarrouk-Mahjoub Tags: Letter to the Editor Source Type: research

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse
Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Ch... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 31, 2018 Category: Internal Medicine Authors: Nicolas Garcelon, Antoine Neuraz, R émi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun and Bastien Rance Tags: Research Source Type: research

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs). The accumulation of GAGs in ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 25, 2018 Category: Internal Medicine Authors: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang and Shuan-Pei Lin Tags: Research Source Type: research

Improving the analysis of composite endpoints in rare disease trials
Composite endpoints are recommended in rare diseases to increase power and/or to sufficiently capture complexity. Often, they are in the form of responder indices which contain a mixture of continuous and bina... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 22, 2018 Category: Internal Medicine Authors: Martina McMenamin, Anna Berglind and James M. S. Wason Tags: Research Source Type: research

Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients
Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzym... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 22, 2018 Category: Internal Medicine Authors: Jan C. van der Meijden, Michelle E. Kruijshaar, Dimitris Rizopoulos, Pieter A. van Doorn, Nadine A. M. E. van der Beek and Ans T. van der Ploeg Tags: Research Source Type: research

A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases
Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surfa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 22, 2018 Category: Internal Medicine Authors: Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo and Dedee F. Murrell Tags: Review Source Type: research

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, sever... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 21, 2018 Category: Internal Medicine Authors: Elise Vantroys, Jo él Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten and Rudy Van Coster Tags: Research Source Type: research

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 16, 2018 Category: Internal Medicine Authors: Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama and Emanuele Bellacchio Tags: Research Source Type: research

A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dub é syndrome
Birt-Hogg-Dub é syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 15, 2018 Category: Internal Medicine Authors: Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka and Kuniaki Seyama Tags: Research Source Type: research

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome
Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 11, 2018 Category: Internal Medicine Authors: Elsa G. Shapiro, Chester B. Whitley and Julie B. Eisengart Tags: Research Source Type: research

Lessons learned from IDeAl — 33 recommendations from the IDeAl-net about design and analysis of small population clinical trials
IDeAl (Integrated designs and analysis of small population clinical trials) is an EU funded project developing new statistical design and analysis methodologies for clinical trials in small population groups. ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 11, 2018 Category: Internal Medicine Authors: Ralf-Dieter Hilgers, Malgorzata Bogdan, Carl-Fredrik Burman, Holger Dette, Mats Karlsson, Franz K önig, Christoph Male, France Mentré, Geert Molenberghs and Stephen Senn Tags: Review Source Type: research

Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis
Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk fact... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2018 Category: Internal Medicine Authors: Nadine Zwink and Ekkehart Jenetzky Tags: Review Source Type: research

Naxos disease: from the origin to today
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 10, 2018 Category: Internal Medicine Authors: Guo-Liang Li, Ardan M. Saguner and Guy H. Fontaine Tags: Review Source Type: research

Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 4, 2018 Category: Internal Medicine Authors: Emel Ayg ören-Pürsün, Markus Magerl, Andreas Maetzel and Marcus Maurer Tags: Research Source Type: research

Individualized approach to the surgical management of fibrous dysplasia of the proximal femur
Fibrous dysplasia of the proximal femur presents with heterogeneous clinical manifestations dictating different surgical approaches. However, to date there are no clear recommendations to guide the choice of s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2018 Category: Internal Medicine Authors: Bas C. J. Majoor, Andreas Leithner, Michiel A. J. van de Sande, Natasha M. Appelman-Dijkstra, Neveen A. T. Hamdy and P. D. Sander Dijkstra Tags: Research Source Type: research