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pick disease of the brain/groznica
Veza se sprema u međuspremnik
6 rezultatima
Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern.
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Prijava Registriraj se
BACKGROUND
Niemann-Pick disease (NPD) types A and B are lipid storage disorders. NPD type A is a fatal disorder of infancy. Type B is a non-neuronopathic form observed in children and adults. It is associated with enlargement of the liver, spleen, or both, and nodular splenomegaly may be detected
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
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Prijava Registriraj se
OBJECTIVE
Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann-Pick disease type B (NPD B).
METHODS
A single-center, open-label, nonrandomized, single-ascending-dose trial evaluated the safety of intravenous olipudase alfa (0.03-1.0
Pancytopenia in children: A 6-year spectrum of patients admitted to Pediatric Department of Rehman Medical Institute, Peshawar.
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Prijava Registriraj se
OBJECTIVE
To determine the various spectrum of pancytopenia with its frequency on the basis of bone marrow examination in children from 6 months to 14 years.
METHODS
A retrospective descriptive study was carried out at Department of Pediatric Rehman Medical Institute Peshawar from January 2006 to
Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.
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Prijava Registriraj se
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had
Pulmonary involvement in sea-blue histiocytosis.
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Prijava Registriraj se
Sea-blue histiocytosis is one of the six types of Niemann-Pick disease. It is characterized by childhood onset of hepatosplenomegaly, lack of neurological involvement and diminished sphingomyelinase activity. Pulmonary system is rarely involved sea-blue histiocytosis. In this paper, we present a
Granulomatous inflammation of the heart.
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Prijava Registriraj se
Morphologic characteristics of granulomatous inflammation in the heart and pericardium are discussed. In rheumatic fever, two types of myocardial lesion are present--a nonspecific myocarditis and a specific lesion characterized by granulomas known as Aschoff's nodules. The latter undergo a cycle of
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