abetalipoproteinemia/phosphatase

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Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin.

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Prijava / prijava

OBJECTIVE To investigate the pituary, genitalia, adrenal, thyroid, parathyroid and pancreatic endocrine function of a female patient aged 37 with abetalipoproteinemia at the time of diagnosis and 5 years thereafter (after application of a modified diet). SUBJECT-METHODS: Serum concentrations of

Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia.

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Prijava / prijava

Pathological examination was carried out of the skeletal muscle of an 8-year-old boy with abetalipoproteinemia. The patient complained of diarrhea, and showed a deficiency of betalipoprotein, decreased fat-soluble vitamins, acanthocytosis and a mild increase in serum creatine kinase. The prominent

"Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies.

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Prijava / prijava

Four cases of chorea-acanthocytosis were studied with special reference to muscular changes. All the cases showed the clinical stigmata of oro-linguo-facial dyskinesia with tongue biting, mild neurogenic muscular involvement and acanthocytosis. Serum creatine kinase (CK) was persistently elevated,

Yeast-model-based study identified myosin- and calcium-dependent calmodulin signalling as a potential target for drug intervention in chorea-acanthocytosis.

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Prijava / prijava

Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease associated with mutations in the human VPS13A gene. The mechanism of ChAc pathogenesis is unclear. A simple yeast model was used to investigate the function of the single yeast VSP13 orthologue, Vps13. Vps13, like human VPS13A,

Isoproteins of human apolipoprotein A-II: isolation and characterization.

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Prijava / prijava

In human serum, polymorphism of apoA-II predominantly in HDL3 could be demonstrated. HDL3-apoA-II was composed of four isoproteins, each with a molecular weight of 8600 (reduced form) and identical immunological properties. The isoproteins are designated apoA-II-1 (pI 5.16), apoA-II-2 (pI 4.89)

Malabsorption of liposoluble vitamins in a child with bile acid deficiency.

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Prijava / prijava

A male born to first cousins presented at 12 months with hypocalcemic convulsions, rickets, epistaxis due to vitamin K deficiency, and extremely low serum levels of beta-carotene and vitamin A. Liver function was altered moderately (glutamic-oxaloacetic transaminase, 55 U/L; glutamic-pyruvic

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