Results 101 to 110 of about 1,240 (187)

A Sterol Panel for Multiple Rare Lipid Disorders: Validation and Application for Sitosterolemia, Cerebrotendinous Xanthomatosis and Smith-Lemli-Opitz Syndome

BACKGROUND. 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 monitoration of treatment.
Alexander Bauer, Westbye, Sandra R, Dahl, Per M, Thorsby, Emil Andreas, Asprusten, Lili L, Dizdarevic, Kjetil, Retterstøl, Yngve Thomas, Bliksrud   +6 more
core   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene

, 2017
Background:Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult.Case presentation:We report a 5-year-old girl
Hideaki Yagasaki, Takeshi Ichikawa, Kanji Sugita, Takaya Nakane, Kisho Kobayashi, Kouki Aoyama, Takako Toda   +6 more
core   +1 more source

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients

BACKGROUND: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphatebinding cassette genes ( ABCG ) 5 and 8. OBJECTIVE: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients.
Hsieh, YP, Yildirim, AT, Tekin, A, Kaya, Z, Yorulmaz, A, Gülen, H, Sal, E, Niu, DM   +7 more
core  

Grayish-brown atrophy plaques in an adult

JAAD Case Reports, 2023
Tengteng Xin, MM, Yushi Wu, MM, Liangchun Wang, PhD, MD, Junmin Zhang, PhD, MD   +3 more
doaj   +1 more source

Sitosterolemia: platelets on high-sterol diet

Blood, 2013
In this issue of Blood , Kanaji et al have identified the cellular mechanisms responsible for the bleeding abnormality and macrothrombocytopenia associated with sitosterolemia.[1][1] ![Figure][2] Impaired ABCG5/ABCG8 heterodimer function in Abcg5 −/− or Abcg8 −/− hepatocytes ...
openaire   +3 more sources

The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case

, 2018
Familial hypercholesterolemia (FH) is a common disorder of lipid metabolism. However there are other rare disorders presenting a similar phenotype as Sitosterolemia, where the patient also presents with high LDL values. Sitosterolemia is a rare autosomal
Rossi, N., Bourbon, M., Alves, A.C., Graça, R., Rausch, T., Medeiros, A.M., Zimon, M., Abrantes, L.B., Benes, V., Pepperkok, R.   +9 more
core  

Biochemical Studies of Inherited Diseases Related to Abnormal Cholesterol Metabolism. II : Absence of Unusual C2s and C29 Bile Acid Homologs in Bile and Urine of Sitosterolemia [PDF]

, 1994
Bile acids, bile alcohols and sterols excreted in bile and urine from a patient with sitosterolemia were studied. Glycine- and taurine-conjugated cholic acid, deoxycholic acid and chenodeoxycholic acid were identified as the major constituents of both ...
Une, Mizuho, Ohshima, Akira, Hoshita, Takahiko   +2 more
core  

Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia. [PDF]

Hematol Transfus Cell Ther
Saha S, Dolai TK, Ghosh K, Jajodia E.
europepmc   +1 more source

Subcutaneous nodules on the elbows of a teenager. [PDF]

JAAD Case Rep
Haveric A, Rhein JG, Lee JB, Waseh S, Hsu S, Metkowski AR.   +5 more
europepmc   +1 more source