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H. Nadler · SciRah

Researcher profile · Semantic Scholar

H. Nadler

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H. Nadler — researcher profile on SciRah

h-index: 30
Works: 179
Citations: 2,589

Most-cited papers

Purification and some properties of soluble human liver arylsulfatases.
E. Shapira, H. Nadler
1975Archives of Biochemistry and Biophysics43 citations
Semantic Scholar
Congenital scalp defects with distal limb anomalies: Report of a family
B. Burton, L. Hauser, H. Nadler
1976Journal of Medical Genetics34 citations Open access
Semantic Scholar
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.
Y. Ben-yoseph, J. E. Reid, B. Shapiro, H. Nadler
1985American Journal of Human Genetics33 citations
Semantic Scholar
Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.
E. Shapira, Ron R. Degregorio, R. Matalon, H. Nadler
1975Biochemical and Biophysical Research Communications - BBRC33 citations
Semantic Scholar
Heritable disorders of amino acid metabolism: Patterns of clinical expression and genetic variation.
H. Nadler
197532 citations
Semantic Scholar
Prenatal detection of cystic fibrosis.
H. Nadler, Phyllis Rembelski, Kathi Mesirow
1981The Lancet28 citations
Semantic Scholar
Nager acrofacial dysostosis: report of a case.
B. Burton, H. Nadler
1977Jornal de Pediatria28 citations
Semantic Scholar
Purification and properties of neutral ?-galactosidases from human liver
Y. Ben-yoseph, E. Shapira, D. Edelman, B. Burton +1 more
197726 citations
Semantic Scholar
Comparison between purified alpha2-macroglobulin preparations from normal controls and patients with cystic fibrosis. Kinetic and structural properties of the complex with bovine trypsin.
E. Shapira, C. L. Martin, H. Nadler
1977Journal of Biological Chemistry26 citations Open access
Semantic Scholar
Decreased sialic acid and altered binding to lectins of purified alpha 2-macroglobulin from patients with cystic fibrosis.
Yoav Ben-Yoseph, C. Defranco, H. Nadler
1979Clinica chimica acta; international journal of clinical chemistry25 citations
Semantic Scholar
Screening for Congenital Metabolic Disorders in the Newborn Infant: Congenital Deficiency of Thyroid Hormone and Hyperphenylalaninemia
C. Scriver, M. Feingold, P. Mamunes, H. Nadler
1977Pediatrics25 citations
Semantic Scholar
Deficiency of Arginine Esterase in Cystic Fibrosis of the Pancreas: Demonstration of the Proteolytic Nature of the Activity
G.-J.-S. Rao, H. Nadler
1975Pediatric Research24 citations
Semantic Scholar
Protease deficiency in plasma of patients with cystic fibrosis. Reduced reaction of 4-methylumbelliferylguanidinobenzoate with plasma of patients with cystic fibrosis.
M. Walsh-Platt, G. Jagga Rao, H. Nadler
1979Enzyme23 citations
Semantic Scholar
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
M. Fiddler, D. Vine, E. Shapira, H. Nadler
1979Nature23 citations
Semantic Scholar
Decreased formation of α2-macroglobulin-protease complexes in plasma of patients with cystic fibrosis
E. Shapira, Y. Ben-yoseph, H. Nadler
197623 citations
Semantic Scholar
Demonstration of the heterozygous state in Hunter's syndrome.
C. Booth, H. Nadler
1974Pediatrics21 citations
Semantic Scholar
Hawkinsinuria in two families.
M. Borden, J. Holm, Jack Leslie, L. Sweetman +5 more
1992American journal of medical genetics19 citations
Semantic Scholar
The future of pediatrics.
H. Nadler, Wendy J. Evans
1987A M A Journal of Diseases of Children18 citations
Semantic Scholar
Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.
M. Evans, I. Zador, F. Qureshi, H. Budev +4 more
1988American journal of medical genetics17 citations
Semantic Scholar
Reaction of 4-methylumbelliferylguanidinobenzoate with proteases in plasma of patients with cystic fibrosis.
G. Jagga Rao, M. Platt, H. Nadler
1978Enzyme17 citations
Semantic Scholar
In vitro "responsive" methylmalonic acidemia: a new variant.
C. Kaye, G. Morrow, H. Nadler
1974Jornal de Pediatria17 citations
Semantic Scholar
Methylumbelliferyl-guanidinobenzoate reactive proteases in amniotic fluid: possible marker for cystic fibrosis.
M. M. Walsh, H. Nadler
1979The Lancet16 citations
Semantic Scholar
Abnormal breakdown of α2-macroglobulin-trypsin complex in cystic fibrosis
E. Shapira, Y. Ben-yoseph, H. Nadler
197716 citations
Semantic Scholar
REACTION OF 4-METHYLUMBELLIFERYLGUANIDINOBENZOATE WITH PROTEASES IN HUMAN AMNIOTIC FLUID
M. M. Walsh, G. Rao, H. Nadler
1980Pediatric Research15 citations
Semantic Scholar
Enhanced UDP-Galactose: Glycoprotein Galactosyl Transferase Activity in Cultivated Skin Fibroblasts from Patients with Cystic Fibrosis and Its Possible Relationship to the Pathogenesis of the Disease
G. Rao, G. Spells, H. Nadler
1977Pediatric Research15 citations
Semantic Scholar
Prenatal detection of cystic fibrosis on amniotic fluid.
H. Nadler, M. M. Walsh
1980The Lancet14 citations
Semantic Scholar
Fetal tissue transplantation.
H. Nadler
1989A M A Journal of Diseases of Children13 citations
Semantic Scholar
The Metabolism of Sialic Acid in Cystic Fibrosis
Y. Ben-yoseph, C. Defranco, H. Nadler
1981Pediatric Research13 citations
Semantic Scholar
Reaction of 4-Methylumbelliferylguanidinobenzoate with Cultivated Human Skin Fibroblasts Derived from Patients with Cystic Fibrosis
M. Platt, G. Rao, H. Nadler
1978Pediatric Research12 citations
Semantic Scholar
Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy.
C. Kaye, C. Booth, D. Meeker, H. Nadler
1977Cleft Palate Journal10 citations
Semantic Scholar
Prenatal Diagnosis of Inborn Defects: A Status Report
H. Nadler
19759 citations
Semantic Scholar
Maternal serum alpha-fetoprotein screening in 1987.
J. Simpson, H. Nadler
1987Obstetrics and Gynecology8 citations
Semantic Scholar
Neutral Amino Acid Transport in Cultivated Human Skin Fibroblasts
C. Booth, H. Nadler
19758 citations
Semantic Scholar
Enhancement of UDPgalactose: glycoprotein galactosyltransferase in cultured human skin fibroblasts by cationic polypeptides.
G. Jagga Rao, D. Chyatte, H. Nadler
1978Biochimica et Biophysica Acta7 citations
Semantic Scholar
The Chicago variant of clinical galactosemia
C. M. Chacko, R. Wappner, I. Brandt, H. Nadler
1977Human Genetics7 citations
Semantic Scholar
Transport of L-Cystine by Cultivated Skin Fibroblasts of Normal Subjects and Patients with Cystinosis
C. Kaye, H. Nadler
1976Pediatric Research7 citations Open access
Semantic Scholar
Brain β-Galactosidase and Gm1 Gangliosidosis
L. Chou, C. Kaye, H. Nadler
1974Pediatric Research7 citations
Semantic Scholar
Normal two-dimensional gel electrophoresis of alpha-2-macroglobulin in cystic fibrosis.
D. Comings, L. Lefever, Y. Ben-yoseph, H. Nadler
1980American Journal of Human Genetics6 citations
Semantic Scholar
Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis
B. Burton, A. Gerbie, H. Nadler
19796 citations
Semantic Scholar
Multiple carbohydrate-cleaving specificities in human acidic and neutral glycosidases.
Yoav Ben-Yoseph, Morris B. Fiddler, Robert Rousson, H. Nadler
1979Biochimica et Biophysica Acta6 citations
Semantic Scholar
Immunologic Studies of Arylsulfatase A in Normal and Metachromatic Leukodystrophy Liver
E. Shapira, Ron R. Degregorio, H. Nadler
1978Pediatric Research6 citations
Semantic Scholar
Maternal serum AFP screening: promise not yet fulfilled.
H. Nadler, J. L. Simpson
1979Obstetrics and Gynecology5 citations
Semantic Scholar
Lactosyl ceramidosis: deficient activity of neutral beta-galactosidase in liver and cultivated fibroblasts?
Barbara K. Burton, Yoav Ben-Yoseph, H. Nadler
1978Clinica chimica acta; international journal of clinical chemistry5 citations
Semantic Scholar
Polyhydramnios, congenital malformations, and intrauterine detection
H. Nadler
1977Pediatrics5 citations
Semantic Scholar
Separation of beta-galactosidases and beta-glucosidases from human liver.
E. Shapira, Anne David, Ron R. Degregorio, H. Nadler
1976Enzyme5 citations
Semantic Scholar
Absence of a Serum Factor in Patients with Cystic Fibrosis
L. Chou, H. Nadler
1976Pediatric Research5 citations
Semantic Scholar
Correction of γ-Glutamyl Transpeptidase Deficiency in Amniotic Fluid of Some Cystic Fibrosis Fetuses by Mixing with Nondeficient Fluids
Y. Ben-yoseph, Phyllis Rembelski, H. Nadler
1984Pediatric Research4 citations
Semantic Scholar
Prenatal Diagnosis for Pediatricians
C. Scriver, M. Feingold, N. A. Holtzman, Peter Mamunes +5 more
1980Pediatrics4 citations
Semantic Scholar
871 ACYCLOVIR THERAPY OF PRIMARY VARICELLA IN LEUKEMIA
S. Shulman, R. Yogev, R. Keeney, E. Morgan +1 more
1981Pediatric Research3 citations
Semantic Scholar
884 EFFECTS OF THE CONCEPTUS ON GLUCOSE KINETICS DURING FASTING IN PREGNANCY
E. Ogata, Lance K. Sanders, B. Metzger, N. Freinkel +1 more
1978Pediatric Research3 citations
Semantic Scholar

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