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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"
Page 1
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. ...CONCLUSIONS: This paper provides detailed …
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the ur …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. Cochrane Database Syst Rev. 2017. PMID: 29274129 Free PMC article. Updated. Review.
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. ...It has been postulated that galactosaemia could be detected on newborn screening and this would …
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme …
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L. Jones-Hughes T, et al. Orphanet J Rare Dis. 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. Orphanet J Rare Dis. 2021. PMID: 34082807 Free PMC article. Review.
BACKGROUND: Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of autosomal recessive inheritance, characterised by an early onset of cholestasis with pruritus and malabsorption, which rapidly progresses, eventually culmi …
BACKGROUND: Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of autosomal recessive …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. Cochrane Database Syst Rev. 2020. PMID: 32567677 Free PMC article.
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. ...It has been postulated that galactosaemia could be detected on newborn screening and this would …
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme …
Characterization of cognitive impairment in adult polyglucosan body disease.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M. Zebhauser PT, et al. J Neurol. 2022 Jun;269(6):2854-2861. doi: 10.1007/s00415-022-10960-z. Epub 2022 Jan 8. J Neurol. 2022. PMID: 34999962 Free PMC article. Review.
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. ...Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a …
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder du …
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M. Vitali C, et al. J Lipid Res. 2022 Mar;63(3):100169. doi: 10.1016/j.jlr.2022.100169. Epub 2022 Jan 20. J Lipid Res. 2022. PMID: 35065092 Free PMC article. Review.
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial LCAT deficiency (FLD). FLD is more severe and characterized by early and progressive chronic kidney disease (CKD). ...
Syndromes associated with LCAT deficiency, a rare autosomal recessive condition, include fish-eye disease (FED) and familial L …
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Ferraroli E, Perulli M, Veredice C, Contaldo I, Quintiliani M, Ricci M, Venezia I, Citrigno L, Qualtieri A, Spadafora P, Cavalcanti F, Battaglia DI. Ferraroli E, et al. Pediatr Neurol. 2022 Jul;132:45-49. doi: 10.1016/j.pediatrneurol.2022.05.002. Epub 2022 May 17. Pediatr Neurol. 2022. PMID: 35636282 Review.
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle reflexes, and (3) generalized stiffness following the startle. Defects in GLRA1 are the most common cause of HPX, inherit …
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excess …
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY. Lim HD, et al. BMC Med Genomics. 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. BMC Med Genomics. 2023. PMID: 37041640 Free PMC article.
BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants …
BACKGROUND: Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biol …
A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia.
Siddiq S, Clark A, Mumford A. Siddiq S, et al. Haemophilia. 2011 Sep;17(5):e858-69. doi: 10.1111/j.1365-2516.2011.02516.x. Epub 2011 Apr 4. Haemophilia. 2011. PMID: 21457404 Review.
Glanzmann Thrombasthenia (GT) is a rare autosomal recessive disorder which usually manifests as severe mucocutaneous bleeding and is caused by deficiency of the platelet glycoprotein IIb-IIIa. ...Primary postpartum haemorrhage (PPH) was reported in 34% of pre …
Glanzmann Thrombasthenia (GT) is a rare autosomal recessive disorder which usually manifests as severe mucocutaneous bl …
Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis.
Jat KR, Walia DK, Khairwa A. Jat KR, et al. Cochrane Database Syst Rev. 2021 Sep 22;9(9):CD010288. doi: 10.1002/14651858.CD010288.pub5. Cochrane Database Syst Rev. 2021. PMID: 34550603 Free PMC article. Review.
BACKGROUND: Cystic fibrosis is an autosomal recessive multisystem disorder with an approximate prevalence of 1 in 3500 live births. ...The monoclonal anti-IgE antibody, omalizumab, has improved asthma control in severely allergic asthmatics. The drug is given …
BACKGROUND: Cystic fibrosis is an autosomal recessive multisystem disorder with an approximate prevalence of 1 in 3500 live bi …
61 results