The Smith-Lemli-Opitz syndrome from infancy to adolescence: clinical and biochemical studies

被引:0
|
作者
Krajewska-Walasek, M [1 ]
Gradowska, W [1 ]
Ryzko, J [1 ]
Socha, P [1 ]
Chrzanowska, K [1 ]
Chmielik, J [1 ]
Szaplyko, W [1 ]
Kasprzyk, J [1 ]
Szreter, M [1 ]
Wolski, J [1 ]
Gorska, B [1 ]
Rysiewski, H [1 ]
Gregorek, H [1 ]
Michalkiewicz, J [1 ]
机构
[1] Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P1022
引用
收藏
页码:49 / 49
页数:1
相关论文
共 50 条
  • [1] Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
    Donoghue, Sarah E.
    Pitt, James J.
    Boneh, Avihu
    White, Susan M.
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2018, 31 (04): : 451 - 459
  • [2] Clinical and biochemical screening for Smith-Lemli-Opitz syndrome
    Guzzetta, V
    DeFabiani, E
    Galli, G
    Colombo, C
    Corso, G
    Lecora, M
    Parenti, G
    Strisciuglio, P
    Andria, G
    DiRocco, M
    Giannotti, S
    Lupi, L
    Selicorni, A
    Clementi, G
    Gabrielli, O
    Pinto, L
    Rizzo, A
    Zelante, L
    ACTA PAEDIATRICA, 1996, 85 (08) : 937 - 942
  • [3] Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype
    Ryan, AK
    Bartlett, K
    Clayton, P
    Eaton, S
    Mills, L
    Donnai, D
    Winter, RM
    Burn, J
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (07) : 558 - 565
  • [4] Biochemical variants of Smith-Lemli-Opitz syndrome
    Neklason, DW
    Andrews, KM
    Kelley, RI
    Metherall, JE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 85 (05): : 517 - 523
  • [5] SYNDROME OF SMITH-LEMLI-OPITZ
    LARAMUNOZ, C
    GAMBOA, IA
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1978, 30 (01): : 95 - 95
  • [6] Smith-Lemli-Opitz syndrome
    Martin, A
    Koenig, K
    Scahill, L
    Tierney, E
    Porter, FD
    Nwokoro, NA
    JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2001, 40 (05): : 506 - 507
  • [7] The Smith-Lemli-Opitz syndrome
    Kelley, RI
    Hennekam, RCM
    JOURNAL OF MEDICAL GENETICS, 2000, 37 (05) : 321 - 335
  • [8] SMITH-LEMLI-OPITZ SYNDROME
    JUDGE, CG
    CHAKANOVSKIS, JE
    SUTHERLAND, GR
    MEDICAL JOURNAL OF AUSTRALIA, 1971, 2 (03) : 145 - +
  • [9] SMITH-LEMLI-OPITZ SYNDROME
    SINCLAIR, L
    WINTERBORN, MH
    BROWN, J
    PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON, 1969, 62 (09): : 907 - +
  • [10] Smith-Lemli-Opitz syndrome: Clinical and biochemical findings in Brazilian patients
    Scalco, Fernanda B.
    Otto, Paulo A.
    Brunetti, Iguatemy L.
    Cruzes, Vania M.
    Moretti-Ferreira, Danilo
    GENETICS AND MOLECULAR BIOLOGY, 2006, 29 (03) : 429 - 436