Smith-Lemli-Opitz syndrome: description of 2 affected brothers, clinical characterization and hereditary mechanism
Armendares, S.; Carnevale, A.; Del Castillo, V.; Najar Aparicio, A.
Revista de Investigacion Clinica; Organo del Hospital de Enfermedades de la Nutricion 25(2): 129-142
1973
ISSN/ISBN: 0034-8376 PMID: 4722228 Document Number: 68160
Document emailed within 1 workday
Related Documents
Gemme, G.; Bonioli, E.; Ruffa, G.; Sbolgi, P. 1978: Smith-Lemli-Opitz syndrome. Description of 2 cases and review of the literature Minerva Pediatrica 30(10): 805-810Gracia, R.; Nieto, J.A.; Nistal, M.; Iturriaga, R.; Lledó, G.; Barrio, R.; Lama, R. 1976: Aniridia associated with gonadoblastoma in Smith-Lemli-Opitz syndrome Anales Espanoles de Pediatria 9(8): 19-24
De Die-Smulders, C.; Fryns, J.P. 1992: Smith-Lemli-Opitz syndrome: the changing phenotype with age Genetic Counseling 3(2): 77-82
Nagao, M.; Iwadate, K.; Zhang, W.D.; Takahashi, H.; Yamada, Y.; Suzuki, H.; Takatori, T. 1994: An autopsy case of Smith-Lemli-Opitz syndrome Nihon Hoigaku Zasshi 48(4): 274-278
Fehlow, P. 1988: Contribution to the differential diagnosis of Smith-Lemli-Opitz syndrome Padiatrie und Grenzgebiete 27(4): 331-335
Lima-Martínez, M.M.; Zerpa, J.é; Gil, V. 2014: Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case Investigacion Clinica 55(3): 260-265
Calvani, M.; Tirasacchi, V.; Toscano, V.; Bellussi, A.; Fortuna, C. 1979: Early the larche and hyperprolactinemia in the Smith-Lemli-Opitz syndrome Minerva Pediatrica 31(23): 1721-1732
Pietrzyk, J.J.; Majerska, B.; Pieniazek, M. 1983: Smith-Lemli-Opitz syndrome in a female newborn infant Pediatria Polska 58(7): 663-666
Mücke, J.; Sandig, K.R.; Brückner, H.G. 1977: Variability of the Smith-Lemli-Opitz syndrome. Report on 2 additional cases Padiatrie und Grenzgebiete 16(4): 221-228
Wolski, J.K.; Krajewska-Walasek, M.; Szymkiewicz, C. 1998: Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome Wiadomosci Lekarskie 51(Suppl 3): 129-133
Hasui, M.; Saito, C.; Kasama, T.; Taki, T.; Yachie, A. 1997: Identification of impaired cholesterol biosynthesis in a Japanese patient of Smith-Lemli-Opitz syndrome No to Hattatsu 29(1): 61-66
Starck, L.; Björkhem, I.; Lund, E.; von Döbeln, U. 1995: New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered Lakartidningen 92(37): 3325-6 3329
Kofer, J. 1976: Differential diagnosis of mentally retarded children--report of 2 cases on the Smith-Lemli-Opitz syndrome Ceskoslovenska Pediatrie 31(8): 465-466
Mizushima, A.; Satoyoshi, M. 1988: Unusual responses of muscular rigidity and hypothermia to halothane and succinylcholine; a case report of Smith-Lemli-Opitz (SLO) syndrome Masui. Japanese Journal of Anesthesiology 37(9): 1118-1123
Verma, I.C.; Ghai, O.P. 1971: Smith-Lemlie-Opitz syndrome in an Indian child Indian Pediatrics 8(5): 221-222
Colabucci, F.; Rossodivita, A.; Parigi, A.; Colavita, N. 1987: A clinical and radiological study of two brothers affected by Cockayne syndrome type II Rays 12(2): 57-63 106-7
Sanjeev, K.; Smith, M.L.; Smith, D. 2014: Drs. Smith Brothers: dental surgeons of Calcutta Journal of the History of Dentistry 62(3): 111-113
Marcen Letosa, R.; Fdez Alonso, J.; Quereda Rguez navarro, C.; López Checa, F.; Castilla Jiménez, J.; Rodríguez Algarra, G.; Maceira Cruz, B.; Pereira Palomo, P.; Mateos Aguilar, J. 1977: Hereditary nephritis (Alport's syndrome). Description of a family Revista Clinica Espanola 147(3): 291-296
Schepis, C.; Siragusa, M.; Centofanti, A.; Vinci, M.; Calì, F. 2019: Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant Dermatology Online Journal 25(7)
Jimeno Carruez, A.; Carrasco Prieto, A.L.; Fernández González, M.J.; Ortiz Sanz, B.; Del Pozo Pérez, M.A.; Arranz Pérez, J. 1982: Werner syndrome: clinical and immunological aspects in 2 brothers Revista Clinica Espanola 165(5-6): 333-336