Genes, Recessive

Malattia di Wilson: dieci motivi per (ri)parlarne ai pediatri

R. Iorio, G. Ranucci, D. Liccardo, M.G. Puoti, F. Di Dato

2012/8 — pag. 501-507

Wilson disease (WD) is an inherited autosomal recessive disorder of copper metabolism characterized by progressive copper accumulation in the liver and then in other organs, such as the nervous system, eyes and kidneys. In childhood, clinical prese...

Una speciale anemia sideropenica

M. Davitto, G. Ansal, A. Monno, E. Giglione, C. Maria Maddalena Fiorito, A. Conconi, P. Delbini, V. Vaja, A. Franzil

2011/8

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder characterized by: congenital hypochromic, microcytic anemia, very low mean corpuscular erythrocyte volume, low transferring saturation, poor response to oral iron suppl...

Un caso di afibrinogenemia congenita

C. Alfano, G. Falso, F. Nunziata

2003/2

Febbre periodica ereditaria (Parte seconda)

G. Bartolozzi

2002/2

Sindrome di Shwachman-Diamond: uno studio collaborativo

L. Giglio, P. Petaros, E. Neri, et al.

2002/2 — pag. 85-89

Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive character, with quite variable clinical expression, course and prognosis. The mechanisms of the disease are still not well understood, but effective symptomati...

Ittiosi lamellare congenita

M. Chirico, M.C. Albarelli, L. Pavanello

1999/9

Le β-talassemie

1999/8

Febbre familiare mediterranea: descrizione di un caso clinico

F. Sellitto, E. Varricchio

1997/4 — pag. 241-244

Mediterranean fever is a rare genetic disorder characterized by recurrent fever, poliserositis, abdominal pain and marked alteration of inflammatory serum indexes. The Authors describe a case with a long story of recurrent fever and abdominal p...