Zanichelli, Andrea Arcoleo, Francesco Barca, Maria Pina Borrelli, Paolo Bova, Maria Cancian, Mauro Cicardi, Marco Cillari, Enrico De Carolis, Caterina De Pasquale, Tiziana
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Published in
Orphanet Journal of Rare Diseases
IntroductionHereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences. In this study we present the results of a nationwide survey of ...
Scala, Iris Concolino, Daniela Casa, Roberto Della Nastasi, Anna Ungaro, Carla Paladino, Serena Capaldo, Brunella Ruoppolo, Margherita Daniele, Aurora Bonapace, Giuseppe
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Published in
Orphanet Journal of Rare Diseases
BackgroundPhenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine to tyrosine, using tetrahydrobiopterin (BH4) as coenzyme. Besides dietary phenylalanine restriction, new therapeutic options are emerging, such as the treatment with BH4 in subgroups...
Tonduti, Davide Dorboz, Imen Imbard, Apolline Slama, Abdelhamid Boutron, Audrey Pichard, Samia Elmaleh, Monique Vallée, Louis Benoist, Jean François Ogier, Heléne
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Published in
Orphanet Journal of Rare Diseases
Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cogni...
Mercimek-Mahmutoglu, Saadet Sidky, Sarah Hyland, Keith Patel, Jaina Donner, Elizabeth J Logan, William Mendoza-Londono, Roberto Moharir, Mahendranath Raiman, Julian Schulze, Andreas
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Published in
Orphanet Journal of Rare Diseases
BackgroundInherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders.MethodsThis retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fl...
Kakkis, Emil D O’Donovan, Mary Cox, Gerald Hayes, Mark Goodsaid, Federico Tandon, PK Furlong, Pat Boynton, Susan Bozic, Mladen Orfali, May
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Published in
Orphanet Journal of Rare Diseases
For rare serious and life-threatening disorders, there is a tremendous challenge of transforming scientific discoveries into new drug treatments. This challenge has been recognized by all stakeholders who endorse the need for flexibility in the regulatory review process for novel therapeutics to treat rare diseases. In the United States, the best e...
Thoenes, Michaela Zimmermann, Ulrike Ebermann, Inga Ptok, Martin Lewis, Morag A Thiele, Holger Morlot, Susanne Hess, Markus M Gal, Andreas Eisenberger, Tobias
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Published in
Orphanet Journal of Rare Diseases
BackgroundEarly-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndromic hearing loss (ADNSHL) in a large German family....
Bhattacharya, Kaustuv Mundy, Helen Lilburn, Maggie F Champion, Michael P Morley, David W Maillot, François
Published in
Orphanet Journal of Rare Diseases
BackgroundUncooked corn-starch (UCCS) has been the mainstay of therapy for the hepatic glycogen storage diseases (GSD) but is not always effective. A new starch (WMHMS) has demonstrated a more favourable short-term metabolic profile.ObjectiveTo determine efficacy and safety of a new uncooked starch (WMHMS) compared to UCCS over 16 weeks treatment w...
Demirdas, Serwet Coakley, Katie E Bisschop, Peter H Hollak, Carla E M Bosch, Annet M Singh, Rani H
Published in
Orphanet Journal of Rare Diseases
Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover marker...
Li, Fei Yang, Yijun Jin, Fengyan Dehoedt, Casey Rao, Jia Zhou, Yulan Li, Pu Yang, Ganping Wang, Min Zhang, Rongyan
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Published in
Orphanet Journal of Rare Diseases
BackgroundHemophagocytic lymphohistiocytosis (HLH) is a relatively rare but life-threatening disease with confusing clinical manifestations, rapidly deteriorating health, high morbidity and mortality.MethodsTo improve the recognition as well as understanding of this disorder, we analyzed clinical characteristics and prognostic factors from 85 adult...
Rossi-Semerano, Linda Fautrel, Bruno Wendling, Daniel Hachulla, Eric Galeotti, Caroline Semerano, Luca Touitou, Isabelle Koné-Paut, Isabelle
Published in
Orphanet Journal of Rare Diseases
BackgroundDespite their limited licensed indications, anti–interleukin-1 (anti–IL-1) agents are often used in clinical practice for an increasing number of auto-inflammatory diseases. We conducted a national cross-sectional observational study from January 2011 to January 2013 to record the off-label use of such agents in France. We aimed to estima...