Atalaia, Antonio Thompson, Rachel Corvo, Alberto Carmody, Leigh Piscia, Davide Matalonga, Leslie Macaya, Alfons Lochmuller, Angela Fontaine, Bertrand Zurek, Birte
...
Published in
Orphanet Journal of Rare Diseases
BackgroundRare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific ...
Pradat, Pierre-François Bernard, Emilien Corcia, Philippe Couratier, Philippe Jublanc, Christel Querin, Giorgia Morélot Panzini, Capucine Salachas, François Vial, Christophe Wahbi, Karim
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Published in
Orphanet Journal of Rare Diseases
BackgroundKennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management protocol is to provide evidence-based best practice recommen...
Colas, Pierre
Published in
Orphanet Journal of Rare Diseases
Extensive studies in the past 30 years have established that cyclin-dependent kinases (CDKs) exert many diverse, important functions in a number of molecular and cellular processes that are at play during development. Not surprisingly, mutations affecting CDKs or their activating cyclin subunits have been involved in a variety of rare human develop...
Abdelhakim, Aliaa H. Dharmadhikari, Avinash V. Ragi, Sara D. de Carvalho, Jose Ronaldo Lima Jr. Xu, Christine L. Thomas, Amanda L. Buchovecky, Christie M. Mansukhani, Mahesh M. Naini, Ali B. Liao, Jun
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Published in
Orphanet Journal of Rare Diseases
BackgroundPrimary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed with certain pathogenic variants of genes in the coenzyme Q biosynthesis pathway. In this report, we describe a...
Lin, Liling Zhang, Ying Pan, Hong Wang, Jingmin Qi, Yu Ma, Yinan
Published in
Orphanet Journal of Rare Diseases
BackgroundGlobal developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. In this study, we described the diagnostic courses, clinical and genetic characteristics and prenatal diagnosis of a cohort with patients presented GDD/ID with monogenic c...
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
BackgroundPrimary hyperoxaluria type 1 (PH1) is associated with nephrocalcinosis (NC) and calcium oxalate (CaOx) kidney stones (KS). Populations of urinary extracellular vesicles (EVs) can reflect kidney pathology. The aim of this study was to determine whether urinary EVs carrying specific biomarkers and proteins differ among PH1 patients with NC,...
Kim, Yoo-Mi Choi, Jin-Ho Kim, Gu-Hwan Sohn, Young Bae Ko, Jung Min Lee, Beom Hee Cheon, Chong Kun Lim, Han Hyuk Heo, Sun-Hee Yoo, Han-Wook
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Published in
Orphanet Journal of Rare Diseases
BackgroundGaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for particular GBA mutations in Ashkenazi Jewish and French-Canadian populations. This study aimed to investigate the clinical characteristics and mutation spectrum of GBA in Korean GD patients...
Niu, Zhixing Li, Ye Chen, Wantao Zhao, Junfang Zheng, Hongyu Deng, Qing Zha, Zhian Zhu, Hao Sun, Qiang Su, Lei
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Published in
Orphanet Journal of Rare Diseases
BackgroundAmeloblastic carcinoma (AC) is an odontogenic malignant tumor which is closely related to benign ameloblastoma. Because of its rarity, diagnosis and treatment are difficult. In this study, we summarized and analyzed the clinical and biological characteristics of AC.ResultsFifteen patients with AC and a median age of 53 years were identifi...
McMullan, Julie Crowe, Ashleen L. Bailie, Caitlin Moore, Kerry McMullan, Lauren S. Shamandi, Nahid McAneney, Helen McKnight, Amy Jayne
Published in
Orphanet Journal of Rare Diseases
BackgroundMany people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018–...
Lin, Hsiang-Yu Lee, Chung-Lin Chang, Chia-Ying Chiu, Pao Chin Chien, Yin-Hsiu Niu, Dau-Ming Tsai, Fuu-Jen Hwu, Wuh-Liang Lin, Shio Jean Lin, Ju-Li
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Published in
Orphanet Journal of Rare Diseases
BackgroundMucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which are characterized by the accumulation of glycosaminoglycans, and eventually lead to the progressive damage of various tissues and organs.MethodsAn epidemiological study of MPS in Taiwan was performed using multiple sources. The survival and diagnostic age for ...
