Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ryan H. Peretz"'
Autor:
RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 233-237 (2023)
Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved
Externí odkaz:
https://doaj.org/article/08f12e26bdad4c98bbf06f0a94ea5ee3
Autor:
Ryan H. Peretz, Wadih M. Zein, Robert B. Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
Publikováno v:
American Journal of Medical Genetics Part A. 191:624-629
Boucher-Neuhäuser syndrome (BNHS) is characterized by chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar dysfunction and atrophy. The disorder has been associated with biallelic pathogenic variants in the patatin-like phospholipa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c084e6047acf590ed02ebf6011b5fd
https://doi.org/10.1002/ajmg.a.63045
https://doi.org/10.1002/ajmg.a.63045
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)
Publikováno v:
American Journal of Medical Genetics Part A. 182:1491-1495
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db0988f39bcf1d8beab800d50dc21fda
https://doi.org/10.1002/ajmg.a.61566
https://doi.org/10.1002/ajmg.a.61566
Publikováno v:
Mol Genet Metab
Elevated citrulline and C5-OH levels are reported as part of the newborn screening of core and secondary disorders on the Recommended Uniform Screening Panel (RUSP). Additionally, some state laboratory newborn screening programs report low citrulline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a33ea6f4481a860b79a133380c516d4
https://pubmed.ncbi.nlm.nih.gov/34176718
https://pubmed.ncbi.nlm.nih.gov/34176718
Autor:
Jennifer Myles, Carol Van Ryzin, Joseph Snow, Susan Ferry, Ryan H. Peretz, Camilo Toro, Samantha McCoy, Renata C. Gallagher, Andrea L. Gropman, Audrey Thurm, Jennifer L. Sloan, Scott M. Paul, Diana Bianchi, Charles P. Venditti, Irini Manoli, Oleg A. Shchelochkov, Kevin O'Brien
Publikováno v:
Molecular Genetics and Metabolism. 132:S18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d56f39d7e81d8dda2a2923afd946c23
https://doi.org/10.1016/s1096-7192(21)00112-8
https://doi.org/10.1016/s1096-7192(21)00112-8