Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2003 1
2020 2
2021 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

4 results

Results by year

Filters applied: . Clear all
Page 1
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T, Yin F, Guang S, He F, Yang L, Peng J. Wu T, et al. Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z. Orphanet J Rare Dis. 2020. PMID: 32466763 Free PMC article. Review.
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (h …
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/int …
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. ...There were no cases of definite or probable sudden une …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class …
Molecular genetics of paroxysmal nocturnal hemoglobinuria.
Inoue N, Murakami Y, Kinoshita T. Inoue N, et al. Int J Hematol. 2003 Feb;77(2):107-12. doi: 10.1007/BF02983208. Int J Hematol. 2003. PMID: 12627844 Review.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycosylphosphatidylinositol (GPI)-deficient cells that leads to complement-mediated hemolysis. A somatic mutation in the PIG-A gene involved …
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycos …
Paroxysmal nocturnal hemoglobinuria as a molecular disease.
Rosse WF. Rosse WF. Medicine (Baltimore). 1997 Mar;76(2):63-93. doi: 10.1097/00005792-199703000-00001. Medicine (Baltimore). 1997. PMID: 9100736 Free article. Review.
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. ...PNH is a chronic disease with more than half of adult patients surviving 15 years or more; prognosis is less good in children....
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. ...PNH is a chronic disease with m …