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

Year Number of Results
1966 5
1967 12
1968 19
1969 9
1970 22
1971 17
1972 19
1973 27
1974 21
1975 15
1976 13
1977 5
1978 2
1979 6
1980 5
1981 4
1982 6
1983 8
1984 5
1985 6
1986 4
1987 3
1988 3
1989 4
1990 5
1991 3
1992 1
1993 6
1994 7
1995 5
1996 5
1997 4
1998 5
1999 7
2000 5
2001 10
2002 10
2003 9
2004 17
2005 9
2006 7
2007 7
2008 8
2009 12
2010 16
2011 18
2012 29
2013 32
2014 24
2015 30
2016 35
2017 39
2018 27
2019 27
2020 30
2021 23
2022 22
2023 8
2024 9

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688 results

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Quoted phrase not found in phrase index: "Inborn carbohydrate metabolic disorder"
Page 1
Lactose intolerance.
Vandenplas Y. Vandenplas Y. Asia Pac J Clin Nutr. 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. Asia Pac J Clin Nutr. 2015. PMID: 26715083 Free article. Review.
Lactose is the main carbohydrate in infant feeding, but its impact decreases as the child gets older and consumes less milk and dairy products. ...Symptoms are abdominal cramps, flatulence and watery, acid stools, and decrease the quality of life but lactose intolerance is …
Lactose is the main carbohydrate in infant feeding, but its impact decreases as the child gets older and consumes less milk and dairy …
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ. Leal AF, et al. Int J Mol Sci. 2020 Aug 27;21(17):6213. doi: 10.3390/ijms21176213. Int J Mol Sci. 2020. PMID: 32867370 Free PMC article. Review.
., intrathecal or intracerebroventricular) have been evaluated, as well as the design of fusion peptides that allow the protein transport from the brain capillaries to the central nervous system. In this review, we outline the current knowledge about clinical and physiopat …
., intrathecal or intracerebroventricular) have been evaluated, as well as the design of fusion peptides that allow the protein transport fr …
Sitosterolemia.
Tada H, Kojima N, Takamura M, Kawashiri MA. Tada H, et al. Adv Clin Chem. 2022;110:145-169. doi: 10.1016/bs.acc.2022.06.006. Epub 2022 Aug 9. Adv Clin Chem. 2022. PMID: 36210074
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. ...Sitosterolemia, which is currently considered a rare genetic disorder, has been described as a phenocopy of homozygous familial hyperc …
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. ...S …
Carbohydrate intake.
Leturque A, Brot-Laroche E, Le Gall M. Leturque A, et al. Prog Mol Biol Transl Sci. 2012;108:113-27. doi: 10.1016/B978-0-12-398397-8.00005-8. Prog Mol Biol Transl Sci. 2012. PMID: 22656375 Review.
Nutrigenomic adaptations to carbohydrate availability have been evidenced in metabolic diseases, in the persistence of lactose digestion, and in amylase gene copy number. ...Tailoring the sugar composition of diets to optimize wellness and to prevent the chro …
Nutrigenomic adaptations to carbohydrate availability have been evidenced in metabolic diseases, in the persistence of …
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually …
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosyla …
Dietary Treatments for Epilepsy.
Haridas B, Kossoff EH. Haridas B, et al. Neurol Clin. 2022 Nov;40(4):785-797. doi: 10.1016/j.ncl.2022.03.009. Epub 2022 Sep 28. Neurol Clin. 2022. PMID: 36270691 Review.
Reye syndrome.
De Vivo DC. De Vivo DC. Neurol Clin. 1985 Feb;3(1):95-115. doi: 10.1016/S0733-8619(18)31058-2. Neurol Clin. 1985. PMID: 3887130 Free PMC article. Review.
Intoxications and certain inborn metabolic errors may mimic Reye syndrome. All patients with a recurrent episode should be investigated thoroughly for evidence of a metabolic disorder associated with an enzyme deficiency. Notable in this regard are …
Intoxications and certain inborn metabolic errors may mimic Reye syndrome. All patients with a recurrent episode should be inv …
Sitosterolemia.
Salen G, Patel S, Batta AK. Salen G, et al. Cardiovasc Drug Rev. 2002 Winter;20(4):255-70. doi: 10.1111/j.1527-3466.2002.tb00096.x. Cardiovasc Drug Rev. 2002. PMID: 12481199 Review.
Preface.
Makowski GS. Makowski GS. Adv Clin Chem. 2016;73:xi. doi: 10.1016/S0065-2423(16)30010-5. Adv Clin Chem. 2016. PMID: 26975975 No abstract available.
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.
Tada H, Nohara A, Inazu A, Sakuma N, Mabuchi H, Kawashiri MA. Tada H, et al. J Atheroscler Thromb. 2018 Sep 1;25(9):783-789. doi: 10.5551/jat.RV17024. Epub 2018 Jul 20. J Atheroscler Thromb. 2018. PMID: 30033951 Free PMC article. Review.
In this study, we provide the current understanding and future perspectives of sitosterolemia, which is currently considered an extremely rare disorder but is expected to be much more prevalent in clinical settings....
In this study, we provide the current understanding and future perspectives of sitosterolemia, which is currently considered an extremely ra …
688 results