Results 21 to 30 of about 1,320 (173)

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome [PDF]

Journal of Lipid Research
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment.
Alexander Bauer Westbye, Lili L. Dizdarevic, Sandra R. Dahl, Emil Andreas Asprusten, Yngve Thomas Bliksrud, Anita Lövgren Sandblom, Ulf Diczfalusy, Per M. Thorsby, Kjetil Retterstøl   +8 more
doaj   +2 more sources

A systematic review of ABCG8 mutation and sitosterolemia. [PDF]

Am J Blood Res
Parekh D, Bassir A, Desai D, Ashok Kumar P, Ghimire K.   +4 more
europepmc   +2 more sources

Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital. [PDF]

J Clin Med
Do TTM, Vu CD, Dien TM, Can TBN, Nguyen TTN, Nguyen HH, Tran VK, Nguyen NL, Tran HT, Mai TTC, Nguyen KN.   +10 more
europepmc   +3 more sources

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice. [PDF]

J Pers Med, 2023
Miroshnikova VV, Vasiluev PA, Linkova SV, Soloviov VM, Ivanova ON, Tolmacheva ER, Udalova VY, Baranova PV, Aleksandrova DY, Strokova TV, Miklashevich IM, Izumchenko AD, Dracheva KV, Grunina MN, Smirnova NN, Kuchina AS, Zakharova EY, Pchelina SN.   +17 more
europepmc   +3 more sources

Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm? [PDF]

JCEM Case Rep
Guay SP, Paquette M, Blais C, Gosse G, Baass A.   +4 more
europepmc   +3 more sources

Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl. [PDF]

Cureus
Alquraishi AS, Rayees S.
europepmc   +3 more sources

Grayish-brown atrophy plaques in an adult [PDF]

JAAD Case Reports, 2023
Tengteng Xin, MM, Yushi Wu, MM, Liangchun Wang, PhD, MD, Junmin Zhang, PhD, MD   +3 more
doaj   +2 more sources

β-Sitosterolemia and Xanthomatosis [PDF]

Journal of Clinical Investigation, 1974
A K Bhattacharyya, William E. Connor
openalex   +2 more sources

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turkish Journal of Hematology
Başak Bostankolu Değirmenci, Hamza Polat   +1 more
doaj   +2 more sources

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia. [PDF]

J Paediatr Child Health
ABSTRACT Aims Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications.
Gamage D, Chisholm K, Kilo T, Ooi SE, Srinivasan S.   +4 more
europepmc   +2 more sources