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- 1From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedBackground WHIM syndrome (WS), a rare congenital neutropenia due to mutations of the CXCR4 chemokine receptor, is associated with Human Papillomavirus (HPV)-induced Warts, Hypogammaglobulinemia, bacterial Infections...
- 2From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedAuthor(s): Marc A Levitt1 and Alberto Peéa1 Correction After the publication of this work[1] it was brought to the authors attention that Figure five(Figure 1 here) contained a duplication error in the PDF format,...
- 3From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedBackground Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier...
- 4From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedBackground Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant...
- 5From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency...
- 6From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and...
- 7From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53...
- 8From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedX-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the...
- 9From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedObjective To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral...
- 10From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA...
- 11From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26....
- 12From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500...
- 13From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years...
- 14From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedDefinition of the disease AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) (most commonly of lambda isotype) usually secreted by a small plasma...
- 15From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedGaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with...
- 16From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedOral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and...
- 17From: Orphanet Journal of Rare Diseases. (Vol. 7) Peer-ReviewedBackground Cystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows...
- 18From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedBackground Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported. Objective The purpose of this study was to improve the clinical and...
- 19From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedDiffuse parenchymal lung diseases (DPLD) represent a diverse group of disorders affecting the distal lung parenchyma, specifically the tissue and spaces surrounding the alveoli, which may be filled with inflammatory...
- 20From: Orphanet Journal of Rare Diseases. (Vol. 7, Issue 1) Peer-ReviewedThe trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second...