Chaplin, Catriona
Published in
Orphanet Journal of Rare Diseases
This article describes my reflections of speaking with three patients and their families living with mastocytosis, who I was introduced to through the UK Mastocytosis Support Group. I discuss the various ways in which the condition affects their day-to-day lives and how this has changed during the Covid-19 pandemic. I have tried to give an insight ...
Yang, Jian Dong, Cong Duan, Huilong Shu, Qiang Li, Haomin
Published in
Orphanet Journal of Rare Diseases
Background The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases. Metho...
Witters, Peter Edmondson, Andrew C. Lam, Christina Johnsen, Christin Patterson, Marc C. Raymond, Kimiyo M. He, Miao Freeze, Hudson H. Morava, Eva
Published in
Orphanet Journal of Rare Diseases
A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients. A lack of efficacy of short-term mannose supplementation in multiple prior reports challenge this study’s conclusions. ...
Al-Zayed, Zayed Al-Rijjal, Roua A. Al-Ghofaili, Lamya BinEssa, Huda A. Pant, Rajeev Alrabiah, Anwar Al-Hussainan, Thamer Zou, Minjing Meyer, Brian F. Shi, Yufei
...
Published in
Orphanet Journal of Rare Diseases
Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 ( EXT1 ) and exostosin glycosyltransferase 2 ( EXT2 ). The genetic defects have not been stu...
Mazzella, Allison Curry, Mary Belter, Lisa Cruz, Rosángel Jarecki, Jill
Published in
Orphanet Journal of Rare Diseases
Background With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possib...
Deegan, Patrick Khan, Aneal Camelo, José Simon Jr Batista, Julie L. Weinreb, Neal
Published in
Orphanet Journal of Rare Diseases
Background Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, it is useful to know to what extent fixed patient-specific factors determine risk for future fractures beyond standard risk factor...
Opladen, Thomas Gleich, Florian Kozich, Viktor Scarpa, Maurizio Martinelli, Diego Schaefer, Franz Jeltsch, Kathrin Juliá-Palacios, Natalia García-Cazorla, Ángels Dionisi-Vici, Carlo
...
Published in
Orphanet Journal of Rare Diseases
Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcomin...
Dreyfus, Isabelle Maza, Aude Rodriguez, Lauriane Merlos, Margot Texier, Hélène Rousseau, Vanessa Sommet, Agnès Mazereeuw-Hautier, Juliette
Published in
Orphanet Journal of Rare Diseases
Background Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired because of pain and recurrent skin infections. An improvement in skin lesions after botulinum toxin A injections has previously bee...
Mendivil, Joan Murphy, Ryan de la Cruz, Marie Janssen, Ellen Boysen, Henrik Balle Jain, Gagan Aygören-Pürsün, Emel Hirji, Ishan Devercelli, Giovanna
Published in
Orphanet Journal of Rare Diseases
Background Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional, cross-sectional, web-based survey of patients with a self-reported diagnosis of HAE type 1/2 in Australia, Austria, Canada, Fran...
Jayachandran, Muthuvel Yuzhakov, Stanislav V. Kumar, Sanjay Larson, Nicholas B. Enders, Felicity T. Milliner, Dawn S. Rule, Andrew D. Lieske, John C.
Published in
Orphanet Journal of Rare Diseases