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- 1From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype. Hence, the clinical...
- 2From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding...
- 3From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedOrphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and data is...
- 4From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families. Fabry disease can be...
- 5From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to...
- 6From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal...
- 7From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual...
- 8From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedCongenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular...
- 9From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedAutosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size...
- 10From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin...
- 11From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Orphan drugs are a growing issue of importance to European healthcare policy makers. The success of orphan drug legislation in Europe has resulted in an increasing number of licensed medicines for rare...
- 12From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim...
- 13From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedIt is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year...
- 14From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Persons affected by neurofibromatosis type 1 (NF1) have a decreased survival, yet information on NF1-associated mortality is limited. Methods/Aim The National Mortality Database and individual...
- 15From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are...
- 16From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedVACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies,...
- 17From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedUp to now alpha 1-antitrypsin (AAT) augmentation therapy has been approved only for commercial use in selected adults with severe AAT deficiency-related pulmonary emphysema (i.e. PI*ZZ genotypes as well as combinations...
- 18From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions. Methods A...
- 19From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the...
- 20From: Orphanet Journal of Rare Diseases. (Vol. 6) Peer-ReviewedBackground Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is...