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wolman disease/bolečine v trebuhu

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ČlankiKliničnih preskušanjPatenti
3 rezultatov

Lysosomal acid lipase deficiency in Brazilian children: a case series.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency.A retrospective review of the medical records of children with the disease.Seven children with

Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular

A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Lysosomal acid lipase plays an important role in maintaining cellular cholesterol homeostasis. Complete absence of lysosomal acid lipase activity results in Wolman disease and usually death in infancy, whereas partial deficiency of lysosomal acid lipase results in cholesteryl ester storage disease
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