(Q43045590)

12 November 2017

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children (English)

1 reference

12 November 2017

Dau-Ming Niu

1

1 reference

12 November 2017

Kah-Wai Chong

2

1 reference

12 November 2017

Ju-Hui Hsu

3

1 reference

12 November 2017

Tina Jui-Ting Wu

4

1 reference

12 November 2017

Hsiao-Chi Yu

5

1 reference

12 November 2017

Cheng-Hung Huang

6

1 reference

12 November 2017

Ming-Yu Lo

7

1 reference

12 November 2017

Ching Fai Kwok

8

1 reference

12 November 2017

Lisa E Kratz

9

1 reference

12 November 2017

Low-Tone Ho

10

1 reference

12 November 2017

3 June 2010

1 reference

Journal of Inherited Metabolic Disease

12 November 2017

1 reference

12 November 2017

33

1 reference

12 November 2017

4

1 reference

12 November 2017

437-443

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-010-9126-2

12 November 2017

0 references

cites work

Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9126-2

Independent association of serum squalene and noncholesterol sterols with coronary artery disease in postmenopausal women

21 January 2018

1 reference

12 December 2020

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat

1 reference

12 December 2020

Efficacy and safety of ezetimibe 40 mg vs. ezetimibe 10 mg in the treatment of patients with homozygous sitosterolaemia

1 reference

12 December 2020

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

1 reference

12 December 2020

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

1 reference

12 December 2020

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.

1 reference

12 December 2020

Genetic basis of sitosterolemia

1 reference

12 December 2020

Familial homozygous hypercholesterolemia: report of two patients and review of the literature

1 reference

12 December 2020

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases

1 reference

12 December 2020

Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures

1 reference

12 December 2020

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

1 reference

12 December 2020

Novel donor splice site mutation of ABCG5 gene in sitosterolemia

1 reference

12 December 2020

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

1 reference

12 December 2020

Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction

1 reference

12 December 2020

Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.

1 reference

12 December 2020

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

1 reference

12 December 2020

Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.

1 reference

12 December 2020

Comparison of the activity and disposition of the novel cholesterol absorption inhibitor, SCH58235, and its glucuronide, SCH60663

1 reference

12 December 2020

1 reference

12 December 2020

Response to diet and cholestyramine in a patient with sitosterolemia

1 reference

12 December 2020

ABCG5 and ABCG8 Are Obligate Heterodimers for Protein Trafficking and Biliary Cholesterol Excretion

1 reference

12 December 2020

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

1 reference

12 December 2020

The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor

1 reference

12 December 2020

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

1 reference

12 December 2020

Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.

1 reference

12 December 2020

Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study

1 reference

12 December 2020

Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia

1 reference

12 December 2020

Pseudohomozygous type II hyperlipoproteinemia

1 reference

12 December 2020

Developmental aspects of human hepatic drug glucuronidation in young children and adults

1 reference

12 December 2020

Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge

1 reference

12 December 2020

Phytosterolemia and pseudohomozygous type II hypercholesterolemia in two Chinese patients

1 reference

12 December 2020

Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolaemia

1 reference

12 December 2020

Phytosterolemia and hypercholesterolemia in childhood

1 reference

12 December 2020

Phenotypic heterogeneity of sitosterolemia

1 reference

12 December 2020

Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia

1 reference

12 December 2020

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia

1 reference

12 December 2020

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response

1 reference

12 December 2020

Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis.

1 reference

12 December 2020

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

1 reference

12 December 2020

A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis

1 reference

12 December 2020

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21

1 reference

12 December 2020

Serum plant sterols as a potential risk factor for coronary heart disease

1 reference

12 December 2020

A marked and sustained reduction in LDL sterols by diet and cholestyramine in beta-sitosterolemia

1 reference

12 December 2020

Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis

1 reference

12 December 2020

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis

1 reference

12 December 2020

10.1007/S10545-010-9126-2

Identifiers

DOI

1 reference

Dimensions Publication ID

12 November 2017

0 references

1 reference