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Quoted phrase not found in phrase index: "Inherited lipid metabolism disorder"
Page 1
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U. Vuorio A, et al. Cochrane Database Syst Rev. 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. Cochrane Database Syst Rev. 2017. Update in: Cochrane Database Syst Rev. 2019 Nov 7;2019(11). doi: 10.1002/14651858.CD006401.pub5. PMID: 28685504 Free PMC article. Updated. Review.
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. ...In children with the disease, diet was the cornerstone of treatment but the ad …
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant diso …
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E. Vuorio A, et al. Cochrane Database Syst Rev. 2014 Jul 23;(7):CD006401. doi: 10.1002/14651858.CD006401.pub3. Cochrane Database Syst Rev. 2014. Update in: Cochrane Database Syst Rev. 2017 Jul 07;7:CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 25054950 Updated. Review.
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases; the average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500. ...SEARCH METHODS: Relevant studies were identified from the Group's Inbor …
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases; the average worldwide prevalence of …
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X, Lu S, Gu C, Bian Z, Xie X, Qiao X. Han X, et al. BMC Pediatr. 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3. BMC Pediatr. 2023. PMID: 37803383 Free PMC article.
BACKGROUND: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. ...METHODS: We searched the WangFang and China Nati …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) …
Gaucher disease and bone manifestations.
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML. Marcucci G, et al. Calcif Tissue Int. 2014 Dec;95(6):477-94. doi: 10.1007/s00223-014-9923-y. Epub 2014 Nov 7. Calcif Tissue Int. 2014. PMID: 25377906 Review.
Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. ...
Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. …
Cognitive dysfunction and depression in Fabry disease: a systematic review.
Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH. Bolsover FE, et al. J Inherit Metab Dis. 2014 Mar;37(2):177-87. doi: 10.1007/s10545-013-9643-x. Epub 2013 Aug 16. J Inherit Metab Dis. 2014. PMID: 23949010 Review.
BACKGROUND: Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. ...CONCLUSION: Our review suggests that Fabry disease may be associated with a characteristic pattern …
BACKGROUND: Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular diseas …
Low-fat diets for acquired hypercholesterolaemia.
Smart NA, Marshall BJ, Daley M, Boulos E, Windus J, Baker N, Kwok N. Smart NA, et al. Cochrane Database Syst Rev. 2011 Feb 16;2011(2):CD007957. doi: 10.1002/14651858.CD007957.pub2. Cochrane Database Syst Rev. 2011. PMID: 21328303 Free PMC article. Review.
In most cases, elevated cholesterol levels are associated with high-fat diet, especially saturated fat, coupled with an inactive lifestyle. Less commonly, raised cholesterol may be related to an inherited disorder, familial hypercholesterolaemia. This systematic rev …
In most cases, elevated cholesterol levels are associated with high-fat diet, especially saturated fat, coupled with an inactive lifestyle. …
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment.
Piran S, Amato D. Piran S, et al. J Inherit Metab Dis. 2010 Jun;33(3):271-9. doi: 10.1007/s10545-010-9071-0. Epub 2010 Mar 25. J Inherit Metab Dis. 2010. PMID: 20336376 Review.
Type 1 Gaucher disease (GD1) is an inherited lysosomal storage disease, which is often managed by enzyme replacement therapy (ERT). ...
Type 1 Gaucher disease (GD1) is an inherited lysosomal storage disease, which is often managed by enzyme replacement therapy (ERT). . …
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H. Moorthie S, et al. J Inherit Metab Dis. 2014 Nov;37(6):889-98. doi: 10.1007/s10545-014-9729-0. Epub 2014 Jul 15. J Inherit Metab Dis. 2014. PMID: 25022222 Review.
MS/MS was introduced in 2009 in England to implement newborn bloodspot screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) raising the possibility of screening for other inherited metabolic disorders. Recently, a pilot screening programme was conduc …
MS/MS was introduced in 2009 in England to implement newborn bloodspot screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) …
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.
Arends M, van Dussen L, Biegstraaten M, Hollak CE. Arends M, et al. Br J Haematol. 2013 Jun;161(6):832-42. doi: 10.1111/bjh.12335. Epub 2013 Apr 18. Br J Haematol. 2013. PMID: 23594419 Free article. Review.
Gaucher disease is an autosomal, recessively inherited, lysosomal storage disease, which has been associated with gammopathies and malignancies. ...These include: splenectomy, immune dysregulation, endoplasmic reticulum stress, genetic modifiers, altered iron metabolism …
Gaucher disease is an autosomal, recessively inherited, lysosomal storage disease, which has been associated with gammopathies and ma …
35 results