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Sardinian HPFH

MedGen UID:
856093
Concept ID:
C3891817
Finding
Synonym: SARDINIAN HPFH
 
OMIM®: 142200

Recent clinical studies

Diagnosis

Masala B, Manca L
Clin Chim Acta 1991 May 15;198(3):195-202. doi: 10.1016/0009-8981(91)90353-e. PMID: 1716185

Prognosis

Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L, Dore F, Sciarratta G, Ivaldi G, Saglio G
Hum Genet 1988 May;79(1):13-7. doi: 10.1007/BF00291702. PMID: 2452784

Clinical prediction guides

Ottolenghi S, Giglioni B, Pulazzini A, Comi P, Camaschella C, Serra A, Guerrasio A, Saglio G
Blood 1987 Apr;69(4):1058-61. PMID: 3828530
Gianni AM, Bregni M, Cappellini MD, Fiorelli G, Taramelli R, Giglioni B, Comi P, Ottolenghi S
EMBO J 1983;2(6):921-5. doi: 10.1002/j.1460-2075.1983.tb01522.x. PMID: 6196196Free PMC Article
Cao A, Galanello R, Furbetta M, Muroni PP, Garbato L, Rosatelli C, Scalas MT, Addis M, Ruggeri R, Maccioni L, Melis MA
J Med Genet 1978 Dec;15(6):443-7. doi: 10.1136/jmg.15.6.443. PMID: 745215Free PMC Article

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