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Descriptor English: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Descriptor Spanish: Hipobetalipoproteinemia Familiar por Apolipoproteína B
Descriptor hipobetalipoproteinemia familiar por apolipoproteína B
Entry term(s) deficiencia de apolipoproteína B
déficit de apolipoproteína B
enfermedad por deficiencia de apolipoproteína B
Scope note: Trastorno autosómico dominante del metabolismo de los lípidos. Está causado por mutaciones de las APOLIPOPROTEÍNAS B, principales componentres de los QUILOMICRONES y BETA-LIPOPROTEÍNAS (lipoproteínas de baja densidad o LDL). Las características comprenden concentraciones anormalmente bajas de LDL, concentración normal de triglicéridos y malabsorción de las grasas de la dieta.
Descriptor Portuguese: Hipobetalipoproteinemia Familiar por Apolipoproteína B
Descriptor French: Hypobêtalipoprotéinémie familiale
Entry term(s): Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
Apolipoprotein B Deficiencies
Apolipoprotein B Deficiency
Apolipoprotein B Deficiency Disease
Hypobetalipoproteinemia, Familial, Apo B
Tree number(s): C18.452.584.500.875.440.750
C18.452.584.563.497
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D052476
Scope note: An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Apolipoproteins B (1986-2006)
Public MeSH Note: 2007; for APOLIPOPROTEIN B DEFICIENCY DISEASE see ABETALIPOPROTEINEMIA 2000-2006
History Note: 2007; for APOLIPOPROTEIN B DEFICIENCY DISEASE use ABETALIPOPROTEINEMIA 2000-2006
DeCS ID: 52152
Unique ID: D052476
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2007/01/01
Date of Entry: 2006/07/05
Revision Date: 2013/07/08
Hypobetalipoproteinemia, Familial, Apolipoprotein B - Preferred
Concept UI M0487158
Scope note An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Preferred term Hypobetalipoproteinemia, Familial, Apolipoprotein B
Entry term(s) Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
Apolipoprotein B Deficiencies
Apolipoprotein B Deficiency
Apolipoprotein B Deficiency Disease
Hypobetalipoproteinemia, Familial, Apo B



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