The two families of phenylketonuria and their genetico-biochemical studies
Iuchi, I.; Ameno, S.; Hidaka, K.; Shibata, S.; Kazitani, T.
Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 19(1): 62-63
1974
ISSN/ISBN: 0021-5074 PMID: 4476840 Document Number: 5905
Three cases of classical phenylketonuria and six subjects of heterozygosity were detected from two independent families.
Document emailed within 1 workday
Related Documents
Hashem, N.; Ebrahim, A.; Nour, A. 1970: Classical and atypical phenylketonuria among Egyptians: study of 10 families American Journal of Mental Deficiency 75(3): 329-335Kuznetsova, L.I. 1973: Distribution of mental diseases in families with a congenital burden of phenylketonuria Zhurnal Nevropatologii i Psikhiatrii Imeni S.S. Korsakova 73(4): 583-586
Kalanin, J.; Takarada, Y.; Kagawa, S.; Yamashita, K.; Ohtsuka, N.; Matsuoka, A. 1994: Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia American Journal of Medical Genetics 49(2): 235-239
Saito, K.; Tanaka, A.; Harada, T.; Ikeya, K.; Fukuyama, Y.; Arahata, K.; Sugita, H.; Osawa, M.; Shishikura, K.; Suzuki, H. 1989: Genetic studies of Duchenne muscular dystrophy families using the dystrophy families using the dystrophin cDNA No to Hattatsu 21(4): 361-368
Ahumada Ayala, M.; Jiménez Villanueva, C.; Cardoso Saldaña, G.; Sienra Pérez, J.C.; Zamora González, J.; Posadas Romero, C. 1989: Hypoalphalipoproteinemia and atherosclerosis. Genetic and biochemical profile of 10 families Archivos del Instituto de Cardiologia de Mexico 59(1): 9-18
Fan, G.X.; Qing, L.X.; Jun, Y.; Mei, Z. 1999: Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients Southeast Asian Journal of Tropical Medicine and Public Health 30(Suppl 2): 63-65
Imazato, Y. 1992: Etiological considerations of the loose shoulder from a biochemical point of view--biochemical studies on collagen from deltoid and pectoral muscles and skin Nihon Seikeigeka Gakkai Zasshi 66(10): 1006-1015
Machill, G. 1973: Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test Kinderarztliche Praxis 41(5): 205-209
Mausner, S. 1995: Families helping families: an innovative approach to the provision of respite care for families of children with complex medical needs Social Work in Health Care 21(1): 95-106
Heineman, E. 1996: Complete Families, Half Families, no Families at All: Female-Headed Households and the Reconstruction of the Family in the Early Federal Republic Central European History 29(1): 19-60
Heineman, E. 1996: Complete Families, Half Families, no Families at All: Female-Headed Households and the Reconstruction of the Family in the Early Federal Republic Central European History 29(1): 19-60
Heineman, E. 1996: Complete Families, Half Families, no Families at All: Female-Headed Households and the Reconstruction of the Family in the Early Federal Republic Central European History 29(1): 19-60
Bhattacharyya, A.K. 1975: Studies on kwashiorkor and marasmus in Calcutta (1957-74): II. Pathological, biochemical and metabolic studies Indian Pediatrics 12(11): 1115-1123
Langohr, H.D. 1980: Biochemical studies on muscles in neurogenic atrophies and central paralysis. Studies of the trophic functions of neurons Fortschritte der Medizin 98(39): 1512-1516
Kamijyo, Y.; Hirota-Kawadobora, M.; Fujihara, N.; Wakabayashi, S.; Matsuda, K.; Yamauchi, K.; Terasawa, F.; Okumura, N.; Honda, T. 2009: Functional analysis of heterozygous plasma dysfibrinogens derived from two families of gammaArg275Cys and three families of gammaArg275His, and haplotype analysis for these families Rinsho Byori. Japanese Journal of Clinical Pathology 57(7): 651-658
O'Neill, J.; Trombley, L.; Gundel, M.; Hunter, T.; Nicklas, J.; De Michelena, M. 2013: Identificación de una nueva mutación como causa del síndrome de Lesch-Nyhan en una familia peruana: utilidad del examen molecular para el consejo genético Revista de Neuro-Psiquiatria 62(1): 20-27
Hadnagy, C.; Kovalszky, P. 1977: Studies on families with Osler's disease Folia Haematologica 104(3): 452-462
Ekert, H. 1977: Carrier studies in "Simplex families" Thrombosis and Haemostasis 38(3): 721-723
Ge Rondi, C. 1996: Are the families recorded in the census de facto families? Singles and one-parent families in the 1991 census Statistica 56(4): 499-509
Vasen, H.F.; Müller, H. 1991: DNA studies in families with hereditary forms of cancer Nederlands Tijdschrift Voor Geneeskunde 135(36): 1620-1623