Febbraio 2002 - Volume XXI - numero 2

Medico e Bambino


Pagine elettroniche

Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher

G. Ciana, C. Martini, M. Romano*, B. Bembi

IRCCS “Burlo Garofolo”, Trieste; *ICGEB Area di Ricerca, Trieste

GENETIC CHARACTERISATION AND SUBSTITUTIVE ENZYME-BASED THERAPY IN THE ACUTE NEUROLOGICAL FORM OF THE GAUCHER’S DISEASE

Key words: Gaucher’s disease type 2, ß-glucosidase, Substitutive therapy

The substitutive enzyme-based therapy of the Gaucher’s disease type 2 with a near zero enzymatic activity improved somatic manifestations, but did not affect neurological ones.

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. Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher. Medico e Bambino 2002;21(2):123-124 https://www.medicoebambino.com/?id=0202_123.pdf

Pagine elettroniche

La malattia di Takayasu: rara, ma da non dimenticare

Irene Bruno

IRCCS “Burlo Garofolo”, Trieste

Key words: Takayasu’s disease, Crohn’s disease

Report of two cases of Takayasu’s disease: in the first one, the disease affected a young male patient being treated for Crohn’s disease, whereas in the second one, it affected a girl. The disease was easily diagnosed owing to the presence of a painful and palpable carotid, and was complicated by migrant thrombophlebitis due to vasa vasorum inflammation. The disease resisted to every treatment.

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TAKAYASU’S DISEASE: A RARE DISEASE, NOT TO BE FORGOTTEN. La malattia di Takayasu: rara, ma da non dimenticare. Medico e Bambino 2002;21(2):123-124 https://www.medicoebambino.com/?id=0202_123.pdf

Pagine elettroniche

Botulismo infantile in Romagna: descrizione del primo caso

V. Leone, C. Milocco, S. Facchini, M. Pocecco

UO di Pediatria, Ospedale M. Bufalini, Cesena

INFANTILE BOTULISM IN THE ROMAGNA REGION: REPORT OF THE FIRST CASE

Key words: Infantile botulism

Report of a case of infantile botulism, which appeared with the following symptoms: descending bulbar paralysis and subacute evolution.

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. Botulismo infantile in Romagna: descrizione del primo caso. Medico e Bambino 2002;21(2):124 https://www.medicoebambino.com/?id=0202_123.pdf


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