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Results: 1 to 20 of 250

1.

Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.

Wamelink MM, Struys EA, Valayannopoulos V, Gonzales M, Saudubray JM, Jakobs C.

Prenat Diagn. 2008 May;28(5):460-2. doi: 10.1002/pd.2002. No abstract available.

PMID:
18444224
[PubMed - indexed for MEDLINE]
2.

The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.

Jakobs C, Stellaard F, Smit LM, van Vugt JM, Duran M, Berger R, Rovers P.

Eur J Pediatr. 1991 Feb;150(4):291. No abstract available.

PMID:
2029924
[PubMed - indexed for MEDLINE]
3.

Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders.

Stellaard F, Kleijer WJ, Wanders RJ, Schutgens RB, Jakobs C.

J Inherit Metab Dis. 1991;14(3):353-6. No abstract available.

PMID:
1770790
[PubMed - indexed for MEDLINE]
4.

Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.

Ohba S, Kidouchi K, Toyama J, Oda T, Tsuboi T, Ichiki T, Sobajima H, Sugiyama N, Morishita H, Købayashi M, et al.

J Inherit Metab Dis. 1993;16(5):872-5. No abstract available.

PMID:
8295404
[PubMed - indexed for MEDLINE]
5.

Prenatal diagnosis of inborn errors of metabolism.

Mahoney MJ.

Clin Perinatol. 1979 Sep;6(2):255-73. Review. No abstract available.

PMID:
391465
[PubMed - indexed for MEDLINE]
6.

Epithelial cell cultures from amniotic fluid for prenatal diagnosis.

Benke PJ.

Birth Defects Orig Artic Ser. 1980;16(2):155-9. No abstract available.

PMID:
6971134
[PubMed - indexed for MEDLINE]
7.

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C.

J Inherit Metab Dis. 1994;17(6):732-7.

PMID:
7707697
[PubMed - indexed for MEDLINE]
8.

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C.

Am J Hum Genet. 2001 May;68(5):1086-92. Epub 2001 Mar 27.

PMID:
11283793
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[Prenatal diagnosis of hereditary diseases. V. Results in relation to congenital errors of metabolism].

Lisker R.

Gac Med Mex. 1972 Aug;104(2):124-7. Spanish. No abstract available.

PMID:
5072826
[PubMed - indexed for MEDLINE]
10.

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Jakobs C, Ogier H, Rabier D, Gibson KM.

Prenat Diagn. 1993 Feb;13(2):150. No abstract available.

PMID:
8464836
[PubMed - indexed for MEDLINE]
11.

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.

Pomponio RJ, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton SW, Meyers GA, Reynolds T, Buck G, Nance WE, Wolf B.

Prenat Diagn. 1998 Feb;18(2):117-22.

PMID:
9516011
[PubMed - indexed for MEDLINE]
12.

[Cultivation of amniotic fluid cells for the purpose of diagnosing certain metabolic diseases].

Zolotukhina TV, Tsvetkova IV.

Biull Eksp Biol Med. 1980 Mar;89(3):344-6. Russian.

PMID:
7388145
[PubMed - indexed for MEDLINE]
13.

Intrauterine diagnosis of biochemical disorders.

Burton BK.

Semin Perinatol. 1980 Jul;4(3):179-87. No abstract available.

PMID:
6932103
[PubMed - indexed for MEDLINE]
14.

Antenatal diagnosis of inborn errors of metabolism: tissue culture aspects.

Sutherland GR, Bain AD.

Humangenetik. 1973 Dec 10;20(3):251-5. No abstract available.

PMID:
4772078
[PubMed - indexed for MEDLINE]
15.

[Prenatal diagnosis of hereditary enzymopathies].

Tsvetkova IV.

Vestn Akad Med Nauk SSSR. 1984;(8):70-4. Russian. No abstract available.

PMID:
6495831
[PubMed - indexed for MEDLINE]
16.

Prenatal diagnosis and genetic counselling.

Brock DJ.

J Clin Pathol Suppl (R Coll Pathol). 1974;8:150-5. No abstract available.

PMID:
4536362
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Diagnosis and prenatal diagnosis of lysosomal storage diseases.

Shi HP, Guo YF, Zhang WM, Yuan LF, Luo HY, Sun NH, Zhao SM, Zhu MG.

Chin Med J (Engl). 1988 Jun;101(6):383-7. No abstract available.

PMID:
3146466
[PubMed - indexed for MEDLINE]
Free Article
18.

The nature and origin of the soluble protein in human amniotic fluid.

Sutcliffe RG.

Biol Rev Camb Philos Soc. 1975 Feb;50(1):1-33. Review. No abstract available.

PMID:
1100128
[PubMed - indexed for MEDLINE]
19.

15 years of prenatal diagnosis of inherited metabolic diseases: the Lyon experience.

Mandon G, Mathieu M.

J Inherit Metab Dis. 1989;12 Suppl 2:257-9. No abstract available.

PMID:
2512419
[PubMed - indexed for MEDLINE]
20.

Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia.

Kamoun P, Parvy P, Pham Dinh D, Boué J, Cathelineau L.

Prenat Diagn. 1983 Jan;3(1):53-6. No abstract available.

PMID:
6844264
[PubMed - indexed for MEDLINE]

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