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Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.
Proc Natl Acad Sci U S A. 1970 Oct;67(2):976-82
PMID: 5289034
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Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases.
Humangenetik. 1973;20(2):175-8
PMID: 4785165
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Glycogen storage diseases.
Biochimie. 1972;54(5):745-52
PMID: 4347397
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Prenatal detection of genetic disorders.
Adv Hum Genet. 1972;3:1-37
PMID: 4578263
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The quantitative histochemistry of hypothalamus. I. Pentose shunt enzymes in the activated supraoptic nucleus of the rat.
J Histochem Cytochem. 1967 Jul;15(7):394-8
PMID: 6051742
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The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.
Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048-51
PMID: 4262258
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Use of cell culture techniques in diagnosis and studies of inherited disease.
Semin Hematol. 1972 Oct;9(4):403-29
PMID: 4117165
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Lipidoses.
Biochimie. 1972;54(5):723-33
PMID: 4654167
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Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analyses.
Pediatr Res. 1975 May;9(5):498-503
PMID: 1055986
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DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.
Proc Natl Acad Sci U S A. 1963 Sep;50:481-5
PMID: 14067093
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Treatment of metachromatic leukodystrophy in fibroblasts by enzyme replacement.
N Engl J Med. 1971 Mar 25;284(12 ):672-3
PMID: 5545612
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Methodology of the quantitative cytochemical analysis of single or small numbers of cultured cells.
Histochem J. 1974 Jul;6(4):409-29
PMID: 4853198
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Correction of the enzymic defect in cultured fibroblasts from patients with Fabry's disease: treatment with purified alpha-galactosidase from ficin.
Pediatr Res. 1973 Aug;7(8):684-90
PMID: 4732107
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The single-active-X: functional differentiation at the chromosome level.
Natl Cancer Inst Monogr. 1967 Sep;26:327-51
PMID: 4864109
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Prenatal genetic diagnosis. 3.
N Engl J Med. 1970 Dec 31;283(27):1498-504
PMID: 4992307
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Linkage analysis using somatic cell hybrids.
Adv Hum Genet. 1972;30:173-235
PMID: 4125882
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Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.
J Exp Med. 1967 Sep 1;126(3):509-22
PMID: 4962269
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A modified uronic acid carbazole reaction.
Anal Biochem. 1962 Oct;4:330-4
PMID: 13971270
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Tissue culture and antenatal detection of molecular diseases.
Biochimie. 1972;54(5):677-82
PMID: 4654164
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X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7
PMID: 4868511
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Uptake of beta-glucuronidase by deficient human fibroblasts.
Lab Invest. 1973 Oct;29(4):449-53
PMID: 4270349
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QUANTITATIVE CYTOCHEMICAL STUDIES ON INTERPHASE GROWTH. I. DETERMINATION OF DNA, RNA AND MASS CONTENT OF AGE DETERMINED MOUSE FIBROBLASTS IN VITRO AND OF INTERCELLULAR VARIATION IN GENERATION TIME.
Exp Cell Res. 1965 May;38:272-84
PMID: 14284508
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1516-9
PMID: 5283941
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Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization.
Nat New Biol. 1972 Jul 19;238(81):80-3
PMID: 4505415
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Mammalian oocytes: X chromosome activity.
Science. 1969 Mar 7;163(3871):1078-9
PMID: 5764873
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A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).
Clin Chim Acta. 1973 Dec 27;49(3):361-75
PMID: 4272965
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The quantitative histochemistry of the brain; histological sampling.
J Histochem Cytochem. 1953 Nov;1(6):420-8
PMID: 13118123
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Protein measurement with the Folin phenol reagent.
J Biol Chem. 1951 Nov;193(1):265-75
PMID: 14907713
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HYBRID CELLS DERIVED FROM MOUSE AND MAN: ARTIFICIAL HETEROKARYONS OF MAMMALIAN CELLS FROM DIFFERENT SPECIES.
Nature. 1965 Feb 13;205:640-6
PMID: 14287398
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Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3
PMID: 13764598
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Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.
Science. 1973 Aug 24;181(4101):753-5
PMID: 4269326
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An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.
Clin Genet. 1974;5(4):368-77
PMID: 4211797
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Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation.
Proc Natl Acad Sci U S A. 1969 Mar;62(3):793-9
PMID: 5257005
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Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Science. 1970 Oct 9;170(3954):180-1
PMID: 5466114
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A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.
Biochem Biophys Res Commun. 1972 Nov 15;49(4):992-9
PMID: 4345092