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 NCBI Filters

Results by year

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

Year Number of Results
1992 1
1994 1
1999 1
2002 1
2004 1
2005 1
2008 1
2009 1
2011 1
2012 2
2013 1
2014 1
2015 2
2016 2
2021 2
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hype …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). Brennenstuhl H, et al. J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28. J Inherit Metab Dis. 2021. PMID: 34145613
The phenotype of adult and adolescent MVA patients is more heterogeneous than previously assumed. Outcome varies from an asymptomatic course to early death. MVK variants cluster in functionally important and highly conserved protein domains and show high concordance regard …
The phenotype of adult and adolescent MVA patients is more heterogeneous than previously assumed. Outcome varies from an asymptomatic cou …
Neurological manifestations of organic acid disorders.
Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.
Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals c …
Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the abs …
The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency.
Jeyaratnam J, Faraci M, Gennery AR, Drabko K, Algeri M, Morimoto A, Sirait T, Lankester AC, Albert M, Neven B, Frenkel J; EBMT Inborn Errors Working Party. Jeyaratnam J, et al. Pediatr Rheumatol Online J. 2022 Jul 29;20(1):56. doi: 10.1186/s12969-022-00716-4. Pediatr Rheumatol Online J. 2022. PMID: 35906690 Free PMC article.
Transplantation may be justified in patients with a severe disease course on conservative therapy....
Transplantation may be justified in patients with a severe disease course on conservative therapy....
Perinatal onset mevalonate kinase deficiency.
Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Steiner LA, et al. Pediatr Dev Pathol. 2011 Jul-Aug;14(4):301-6. doi: 10.2350/11-02-0985-OA.1. Epub 2011 Mar 22. Pediatr Dev Pathol. 2011. PMID: 21425920
Perinatal onset mevalonate kinase deficiency is associated with a very poor prognosis, with death in utero or in early infancy. Detailed autopsy findings in mevalonate kinase deficiency have rarely been reported....
Perinatal onset mevalonate kinase deficiency is associated with a very poor prognosis, with death in utero or in early infancy. Detai …
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD. Schafer BL, et al. J Biol Chem. 1992 Jul 5;267(19):13229-38. J Biol Chem. 1992. PMID: 1377680 Free article.
The 1188-base pair open reading frame coded for a 396-amino acid polypeptide with a deduced M(r) of 42,450. The predicted protein sequence displayed similarity to those of galactokinase and the yeast RAR1 protein, indicating that they may belong to a common gene family. .. …
The 1188-base pair open reading frame coded for a 396-amino acid polypeptide with a deduced M(r) of 42,450. The predicted protein seq …
19 results