Familial hypobetalipoproteinemia: Report of a family and review of Spanish contributions;Hipobetalipoproteinemia familiar. Descripción de una familia y revisión de las aportaciones Españolas

Anales Espanoles de Pediatria

Volumn 56, Issue 1, 2002, Pages 64-67

  Diego Nunez M A ^a   Cortijo Gonzalez C ^a  

^a NONE   (Spain)

Author keywords

Apolipoprotein B; Hypobetalipoproteinemia; Hypocholesterolemia

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FAMILIAL DISEASE; FEMALE; HUMAN; HYPOBETALIPOPROTEINEMIA; HYPOCHOLESTEROLEMIA; LIPOPROTEIN METABOLISM; PEDIGREE ANALYSIS; PRESCHOOL CHILD;

CHILD, PRESCHOOL; FEMALE; HUMANS; HYPOBETALIPOPROTEINEMIAS; MALE; PEDIGREE;

EID: 0036327189     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Diagnóstico de dislipoproteinemias hereditarias en recién nacidos
2. Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10.000 Danish newborns
3. Clasificación de las dislipoproteinemias: Una puesta al día
4. Un caso de hipobetalipoproteinemia
5. Hipobetalipoproteinemia familiar
6. Hipobetalipoproteinemia familiar: Descripción de una forma heterocigota con importantes alteraciones bioquímicas
7. Hipobetalipoproteinemia familiar
8. Known mutations of apoB account for only a small minority of hypobetalipoproteinemia
9. Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia
10. Fatty liver due to heterozygous hypobetalipoproteinemia
11. Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B
12. Diffuse fatty liver in familial heterozygous hypobetalipoproteinemia
13. Fatty liver in a case with heterozygous familial hypobetalipoproteinemia
14. Asymptomatic elevation of aminotransferase levels and fatty liver secondary to heterozygous hypobetalipoproteinemia
15. Variable expression of familial heterozygous hypobetalipoproteinemia: Transient malabsorption during infancy
16. Familial hypobetalipoproteinemia associated with hypothyroidism
17. Familial hypobetalipoproteinemia: Report of a case with psychomotor retardation
18. A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia
19. Hypobetalipoproteinemia is associated with low levels of homeostatic risk factors in the Framingham offspring population