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507 results

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Quoted phrase not found in phrase index: "Inborn carbohydrate metabolic disorder"
Page 1
Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X. Zhou Z, et al. Lipids Health Dis. 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. Lipids Health Dis. 2022. PMID: 35042526 Free PMC article. Review.
BACKGROUND: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. ...A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage di …
BACKGROUND: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by muta …
Metabolic pathways at the crossroads of diabetes and inborn errors.
Goetzman ES, Gong Z, Schiff M, Wang Y, Muzumdar RH. Goetzman ES, et al. J Inherit Metab Dis. 2018 Jan;41(1):5-17. doi: 10.1007/s10545-017-0091-x. Epub 2017 Sep 26. J Inherit Metab Dis. 2018. PMID: 28952033 Free PMC article. Review.
While T2DM is defined by its hallmark metabolic symptoms, the genetic risk factors for T2DM are more immune-related than metabolism-related, and the observed metabolic disease may be secondary to chronic inflammation. ...Because many of the biochemical change …
While T2DM is defined by its hallmark metabolic symptoms, the genetic risk factors for T2DM are more immune-related than metabolism-r …
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W. Xia Y, et al. J Clin Lipidol. 2022 Jan-Feb;16(1):40-51. doi: 10.1016/j.jacl.2021.11.015. Epub 2021 Dec 6. J Clin Lipidol. 2022. PMID: 34969652
Elevated total cholesterol(TC) and low-density lipoprotein cholesterol(LDL-C) were observed in 96% patients (pediatric 98%, adult 3/4), and phytosterol levels in 100% patients. ...
Elevated total cholesterol(TC) and low-density lipoprotein cholesterol(LDL-C) were observed in 96% patients (pediatric 98%, adult 3/4 …
Hereditary fructose intolerance.
Cox TM. Cox TM. Baillieres Clin Gastroenterol. 1990 Mar;4(1):61-78. doi: 10.1016/0950-3528(90)90039-j. Baillieres Clin Gastroenterol. 1990. PMID: 2207353
Hereditary fructose intolerance (HFI) is an inborn error of carbohydrate metabolism that is inherited as an autosomal recessive condition. ...The recent identification of genetic lesions that cause this disorder further demonstrates the remarkable clinical be …
Hereditary fructose intolerance (HFI) is an inborn error of carbohydrate metabolism that is inherited as an autosomal recessiv …
Organic acidurias in adults: late complications and management.
Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S. Tuncel AT, et al. J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15. J Inherit Metab Dis. 2018. PMID: 29335813 Review.
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. ...However …
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated …
Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
PURPOSE OF REVIEW: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Fur …
PURPOSE OF REVIEW: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosy …
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF, Alméciga-Díaz CJ, Tomatsu S. Leal AF, et al. Int J Mol Sci. 2023 Nov 9;24(22):16148. doi: 10.3390/ijms242216148. Int J Mol Sci. 2023. PMID: 38003337 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. ...Likewise, current animal models are extensively represented by mice lacking GALNS expression; however, it is well known tha …
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) e …
Plant Sterols, Stanols, and Sitosterolemia.
Ajagbe BO, Othman RA, Myrie SB. Ajagbe BO, et al. J AOAC Int. 2015 May-Jun;98(3):716-723. doi: 10.5740/jaoacint.SGEAjagbe. Epub 2015 May 4. J AOAC Int. 2015. PMID: 25941971 Free PMC article. Review.
Hematologic abnormalities including macrothrombocytopenia, stomatocytosis and hemolysis are frequently observed in sitosterolemia patients. Currently, ezetimibe, a sterol absorption inhibitor, is used as the routine treatment for sitosterolemia, with reported improvement i …
Hematologic abnormalities including macrothrombocytopenia, stomatocytosis and hemolysis are frequently observed in sitosterolemia pat …
Metabolic manipulation of glycosylation disorders in humans and animal models.
Freeze HH, Sharma V. Freeze HH, et al. Semin Cell Dev Biol. 2010 Aug;21(6):655-62. doi: 10.1016/j.semcdb.2010.03.011. Epub 2010 Apr 2. Semin Cell Dev Biol. 2010. PMID: 20363348 Free PMC article. Review.
Clearly, the metabolic chart is not flat; all arrows are not equally robust at all points of time and space. This metabolic perspective may help explain some of these observations and guide the development of other vertebrate models of glycosylation disorders …
Clearly, the metabolic chart is not flat; all arrows are not equally robust at all points of time and space. This metabolic pe …
Cerebral folate deficiency.
Ramaekers VT, Blau N. Ramaekers VT, et al. Dev Med Child Neurol. 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. Dev Med Child Neurol. 2004. PMID: 15581159 Free article.
The pathogenic link between these underlying specific disease entities and the observed secondary CFD has not been resolved....
The pathogenic link between these underlying specific disease entities and the observed secondary CFD has not been resolved....
507 results