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4. Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients. Fan GX; Qing LX; Jun Y; Mei Z Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():63-5. PubMed ID: 11400788 [TBL] [Abstract][Full Text] [Related]
5. [Prenatal diagnosis of inborn error of amino acid metabolism]. Kure S; Tada K Nihon Rinsho; 1992 Jul; 50(7):1530-5. PubMed ID: 1404881 [TBL] [Abstract][Full Text] [Related]
6. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. Muro S; Perez-Cerdá C; Roddríguez-Pombo P; Pérez B; Briones P; Ribes A; Ugarte M J Med Genet; 1999 May; 36(5):412-4. PubMed ID: 10353789 [TBL] [Abstract][Full Text] [Related]
7. [A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria]. Ivashchenko TE; Belova EG; Baranov VS Genetika; 1993 May; 29(5):862-5. PubMed ID: 8335244 [TBL] [Abstract][Full Text] [Related]
8. [Prenatal diagnosis of phenylketonuria (with a report of 10 cases)]. Zeng YT Zhonghua Yi Xue Za Zhi; 1988 Feb; 68(2):61-4. PubMed ID: 2900675 [No Abstract] [Full Text] [Related]
9. [Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)]. Chestkov VV; Shishkin SS Vopr Med Khim; 1986; 32(4):7-12. PubMed ID: 3020793 [TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis. Speer A; Bollman R; Michel A; Neumann R; Bommer C; Hanke R; Riess O; Cobet G; Coutelle C Prenat Diagn; 1986; 6(6):447-50. PubMed ID: 2880342 [TBL] [Abstract][Full Text] [Related]
11. [Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation]. Kozák L; Kuhrová V; Blazková M; Fajkusová L; Dvoráková D; Pijácková A Cas Lek Cesk; 1995 Jun; 134(12):385-7. PubMed ID: 7553743 [TBL] [Abstract][Full Text] [Related]
12. Clinical application of DNA analysis in a family with OTC deficiency. McClead RE; Rozen R; Fox J; Rosenberg L; Menke J; Bickers R; Morrow G Am J Med Genet; 1986 Nov; 25(3):513-8. PubMed ID: 2878615 [TBL] [Abstract][Full Text] [Related]
13. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG Hum Mutat; 1998; 12(4):267-73. PubMed ID: 9744478 [TBL] [Abstract][Full Text] [Related]
14. Screening of amino acid enzymopathies in pregnancy and possibilities of their prenatal diagnosis. Hyánek J; Trnka V; Homolka J; Seemanová E; Macek M; Dolezal A; Wünschová N; Hoza J; Kapras J; Kunová V; Tauchmanová H Acta Univ Carol Med Monogr; 1977; (79 Pt 3):15-21. PubMed ID: 615475 [TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of inherited hemoglobinopathies. Cao A; Pirastu M; Rosatelli C Haematologica; 1990; 75 Suppl 5():169-77. PubMed ID: 1982278 [No Abstract] [Full Text] [Related]
16. [Clinical molecular-genetics for endocrine and metabolic diseases]. Niikawa N Rinsho Byori; 1989 Aug; 37(8):847-54. PubMed ID: 2573745 [TBL] [Abstract][Full Text] [Related]
17. Tay-Sachs disease as a model for screening inborn errors. Blitzer MG; McDowell GA Clin Lab Med; 1992 Sep; 12(3):463-80. PubMed ID: 1355703 [TBL] [Abstract][Full Text] [Related]