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Volumn 93, Issue 5, 2004, Pages 740-742

Hermansky-Pudlak syndrome in a pregnant patient

Author keywords

Analgesic techniques, epidural; Blood, platelet dysfunction; Complications, albinism; Complications, Hermansky Pudlak syndrome; Complications, storage pool disease

Indexed keywords

BUPIVACAINE; DESMOPRESSIN; FENTANYL; HYDROXOCOBALAMIN; IRON; LIDOCAINE; NITROUS OXIDE PLUS OXYGEN;

EID: 7444235492     PISSN: 00070912     EISSN: None     Source Type: Journal    
DOI: 10.1093/bja/aeh256     Document Type: Article
Times cited : (18)

References (10)
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    • Albinism associated with haemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
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    • Hermansky, F.1    Pudlak, P.2
  • 2
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    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998; 338: 1258-64
    • (1998) N. Engl. J. Med. , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brantly, M.2    Kaiser-Kupfer, M.I.3
  • 3
    • 84883869225 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome
    • www. genetests.org. Revised September
    • Gahl WA. Hermansky-Pudlak syndrome. Gene Reviews www. genetests.org. Revised September 2003
    • (2003) Gene Reviews
    • Gahl, W.A.1
  • 4
    • 0025473671 scopus 로고
    • Albinism and Hermansky-Pudlak syndrome in Puerto Rico
    • Witkop CJ, Nunez BM, Rao GH, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med PR 1990; 82: 333-9
    • (1990) Bol. Asoc. Med. PR , vol.82 , pp. 333-339
    • Witkop, C.J.1    Nunez, B.M.2    Rao, G.H.3
  • 5
    • 0036376666 scopus 로고    scopus 로고
    • Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
    • Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002; 76: 234-42
    • (2002) Mol. Genet. Metab. , vol.76 , pp. 234-242
    • Gahl, W.A.1    Brantly, M.2    Troendle, J.3
  • 6
    • 0033957481 scopus 로고    scopus 로고
    • Pulmonary function and high resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-I
    • Brantly M, Avila NA, Shotelersuk V, et al. Pulmonary function and high resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-I. Chest 2000; 117: 129-36
    • (2000) Chest , vol.117 , pp. 129-136
    • Brantly, M.1    Avila, N.A.2    Shotelersuk, V.3
  • 8
    • 0023485139 scopus 로고
    • Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
    • Witcop CJ, Krumwiede N, Sedano H, et al. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987; 26: 305-11
    • (1987) Am. J. Hematol. , vol.26 , pp. 305-311
    • Witcop, C.J.1    Krumwiede, N.2    Sedano, H.3
  • 9
    • 0034764945 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage pool deficiency
    • Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage pool deficiency. Am J Hum Genet 2001; 69: 102-32
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 102-132
    • Huizing, M.1    Anikster, Y.2    Fitzpatrick, D.L.3
  • 10
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    • Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-year gene
    • Suzuki T, Wei L, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-year gene. Nat Genet 2002; 30: 321-4
    • (2002) Nat. Genet. , vol.30 , pp. 321-324
    • Suzuki, T.1    Wei, L.2    Zhang, Q.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.