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4. [Attempt at antenatal diagnosis of argininosuccinic aciduria]. Dhondt JL; Farriaux JP; Pollitt RJ; Vamos E; Richard P; Blanckaert D; Delecour M; Monnier JC; Fontaine G Ann Genet; 1976 Mar; 19(1):23-7. PubMed ID: 1084118 [TBL] [Abstract][Full Text] [Related]
5. Detection of the most frequent congenital amino acid enzymopathies by multiple screening. Homolka J; Hyánek J Acta Univ Carol Med Monogr; 1977; (79 Pt 3):5-13. PubMed ID: 615482 [TBL] [Abstract][Full Text] [Related]
6. [Pre- and postnatal diagnosis of organoacidopathies]. Hoffmann GF; Jakobs C; Rating D; Sweetman L; Trefz FK Monatsschr Kinderheilkd; 1990 Jul; 138(7):381-8. PubMed ID: 2204822 [TBL] [Abstract][Full Text] [Related]
7. Chemical diagnosis of amino acid abnormalities. Possibilities and desirabilities. Wadman SK Acta Univ Carol Med Monogr; 1977; (77 Pt 1):49-69. PubMed ID: 615451 [No Abstract] [Full Text] [Related]
8. [Prevention of congenital metabolic diseases. Early diagnosis by neonatal screening]. Giovannini M; Riva E Minerva Med; 1979 Mar; 70(16):1137-46. PubMed ID: 440584 [No Abstract] [Full Text] [Related]
12. Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies. Rabier D; Chadefaux-Vekemans B; Oury JF; Aupetit J; Bardet J; Gasquet M; Merhand E; Parvy P; Kamoun P Prenat Diagn; 1996 Jul; 16(7):623-8. PubMed ID: 8843471 [TBL] [Abstract][Full Text] [Related]
13. [Evaluation of amino acids in plasma and amniotic fluid of women from genetic risk groups]. Duczyńska N; Cabalska B; Nowaczewska I; Mazurczak T; Klawe H Probl Med Wieku Rozwoj; 1990; 16():103-15. PubMed ID: 2152396 [TBL] [Abstract][Full Text] [Related]
14. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. Cavicchi C; Donati MA; Funghini S; la Marca G; Malvagia S; Ciani F; Poggi GM; Pasquini E; Zammarchi E; Morrone A Clin Genet; 2006 Jan; 69(1):72-6. PubMed ID: 16451139 [TBL] [Abstract][Full Text] [Related]
15. [The pattern of distribution of free amino acids in human amniotic fluid related to the duration of pregnancy. Part II: Changes in concentration in pathological pregnancy (author's transl)]. Heinrich D; Metz J; Kubli F Z Geburtshilfe Perinatol; 1977 Feb; 181(1):46-54. PubMed ID: 848078 [TBL] [Abstract][Full Text] [Related]
16. [Diagnosis and acute treatment of inborn metabolic diseases in infants]. Lund AM; Christensen E; Skovby F Ugeskr Laeger; 2002 Nov; 164(48):5613-9. PubMed ID: 12523004 [TBL] [Abstract][Full Text] [Related]
17. The philosophy and practice of screening for inherited diseases. Komrower GM Pediatrics; 1974 Feb; 53(2):182-8. PubMed ID: 4272866 [No Abstract] [Full Text] [Related]
18. Results of screening for phenylalanine and other amino acid disturbances among pregnant women. Hyánek J; Homolka J; Trnka J; Seemanová E; Cervenka J; Tresohlavá Z; Kapras J; Dolezal A; Srácek J; Vácha V; Hoza J; Losan F; Nevsímalová S; Malá M; Viletová H J Inherit Metab Dis; 1980; 2(3):59-63. PubMed ID: 6796761 [TBL] [Abstract][Full Text] [Related]
19. [Studies of inborn errors of amino acid metabolism and urinary excretion of -phenylethylamine, using screening methods]. Berio A Minerva Pediatr; 1972 Jun; 24(32):937-41. PubMed ID: 5050421 [No Abstract] [Full Text] [Related]
20. Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS. Inoue Y; Ohse M; Shinka T; Kuhara T J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul; 870(2):160-3. PubMed ID: 18343209 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]