合計: 16 |
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PMID (PMCID) | ||
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25488886 |
FEMALE | Infant, Newborn |
A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement? | ||
Ferreira F, Patel V, Matts S. BMJ Case Rep. 2014;2014:. |
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The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in life expected manifestations include coagulopathy, myopathy, retinitis pigmentosa, peripheral neuropathy, hyporeflexia and ataxia. | ||
22236406 |
FEMALE | |
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. | ||
Di Filippo M, Crehalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabes JP, Gottrand F, Luc G, Bozon D, Sassolas A. J Lipid Res. 2012;53(3):548-55. |
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She presented with severe liver injury, low levels of LDL-cholesterol, and subnormal levels of vitamin E, but only mild fat malabsorption and no retinitis pigmentosa or acanthocytosis. | ||
21502686 |
FEMALE | Infant |
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. | ||
Sani MN, Sabbaghian M, Mahjoob F, Cefalu AB, Averna MR, Rezaei N. Ann Hepatol. 2011;10(2):221-6. |
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Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. | ||
12630961 |
MALE | Middle Aged |
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. | ||
Al-Shali K, Wang J, Rosen F, Hegele RA. Clin Genet. 2003;63(2):135-8. |
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The patient had a lifelong history of fat malabsorption, but was only diagnosed with ABL at age 52, based upon such classic features as absence of apo B-containing lipoproteins, acanthocytosis, atypical retinitis pigmentosa and markedly depressed serum beta-carotene concentration. | ||
11592517 |
MALE | Infant |
Abetalipoproteinemia: a case report. | ||
Selimoglu MA, Esrefoglu M, Gundogdu C, Kilic A. Turk J Pediatr. 2001;43(3):243-5. |
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Abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. | ||
9714141 |
FEMALE | Middle Aged |
A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus. | ||
Ohashi K, Ishibashi S, Yamamoto M, Osuga J, Yazaki Y, Yukawa S, Yamada N. Arterioscler Thromb Vasc Biol. 1998;18(8):1330-4. |
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The proband revealed clinical findings of retinitis pigmentosa, acanthocytosis, and loss of deep tendon reflexes that are characteristic of severe hypobetalipoproteinemia. | ||
8866438 |
OTHER | Adult |
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. | ||
Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31. |
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Acanthocytosis and retinitis pigmentosa were additional findings. | ||
8866438 |
OTHER | Adult |
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. | ||
Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31. |
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This phenotype closely resembled the so-called HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration), but extensive serum lipid study failed to demonstrate any lipoprotein abnormality. | ||
8866438 |
OTHER | Adult |
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities. | ||
Malandrini A, Cesaretti S, Mulinari M, Palmeri S, Fabrizi GM, Villanova M, Parrotta E, Montagnani A, Montagnani M, Anichini M, Guazzi GC. J Neurol Sci. 1996;140(1-2):129-31. |
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Acanthocytosis, retinitis pigmentosa, pallidal degeneration. | ||
8697459 |
FEMALE | Child |
Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis. | ||
Malandrini A, Fabrizi GM, Bartalucci P, Salvadori C, Berti G, Sabo C, Guazzi GC. Childs Nerv Syst. 1996;12(3):155-60. |
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Retinitis pigmentosa, acanthocytosis and slight neuromuscular involvement with an increase in serum creatine kinase were observed in both subjects. | ||
7898702 |
MIXED_SAMPLE | Adult |
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). | ||
Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD. Neurology. 1995;45(3 Pt 1):487-92. |
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We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. | ||
7898702 |
MIXED_SAMPLE | Adult |
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). | ||
Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD. Neurology. 1995;45(3 Pt 1):487-92. |
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Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). | ||
8133839 |
FEMALE | |
[Abetalipoproteinemia: case report]. | ||
Guariso G, Chiarelli MS, Nichetti C, Montesco MC, Zancan L. Minerva Pediatr. 1993;45(11):463-6. |
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Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia. | ||
1734303 |
FEMALE | Child |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). | ||
Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Neurology. 1992;42(1):194-8. |
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Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei. | ||
1734303 |
FEMALE | Child |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). | ||
Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Neurology. 1992;42(1):194-8. |
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Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). | ||
3692094 |
FEMALE | Adult |
[Abetalipoproteinemia. Apropos of 2 cases]. | ||
Willemin B, Coumaros D, Zerbe S, Weill-Bousson M, Annonier P, Hirsch E, Aby MA, Schmutz G, Bockel R. Gastroenterol Clin Biol. 1987;11(10):704-8. |
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Both presented the complete clinical and biological features of the disease: ataxia, retinitis pigmentosa, lack of apolipoprotein B, chylomicrons, LDL and VLDL, reduced titers of serum cholesterol and triglycerides, acanthocytosis, very low levels of serum vitamin A and E. Abetalipoproteinemia is a rare autosomal inherited disease. |