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First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.
Am J Hum Genet. 1984 Nov;36(6):1379-85.
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Prenatal diagnosis of I-cell disease in the first and second trimesters.
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3
First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay.
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Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.
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Prenatal diagnosis of mucolipidosis II--electron microscopy and biochemical evaluation.
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[Prenatal diagnosis of mannosidosis using chorion villi].
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Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid.
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Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts.
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Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy.
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Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
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引用本文的文献
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Antisense oligonucleotides delivered to the amniotic cavity in utero modulate gene expression in the postnatal mouse.
Nucleic Acids Res. 2016 Nov 16;44(20):9519-9529. doi: 10.1093/nar/gkw867. Epub 2016 Sep 28.
2
Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.
Hum Genet. 1985;69(4):378-9. doi: 10.1007/BF00291659.
3
Prenatal diagnosis of genetic disease by chorionic villi sampling.
Indian J Pediatr. 1986 Jul-Aug;53(4):489-97. doi: 10.1007/BF02749532.
4
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'.
J Inherit Metab Dis. 1988;11(2):123-30. doi: 10.1007/BF01799861.
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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.
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Absence of maternal contamination of chorionic villi used for fetal-gene analysis.
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Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts.
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Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.
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Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
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Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.
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Diagnosis of fetal trisomy 21 in first trimester.
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Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first-trimester prenatal diagnosis.
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First-trimester fetal diagnosis for haemoglobinopathies: three cases.
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I-cell disease: biochemical studies.
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