Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes
BERRY, G. T, SINGH, R. H, ELSAS, L. J, MAZUR, A. T, GUERRERO, N, KENNEDY, M. J, JIE CHEN, REYNOLDS, R, PALMIERI, M. J, KLEIN, P. D, SEGAL, S
Published in Pediatric research (01.09.2000)
Published in Pediatric research (01.09.2000)
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Journal Article
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
Berry, G.T., Nissim, I., Lin, Z., Mazur, A.T., Gibson, J.B., Segal, S.
Published in The Lancet (British edition) (21.10.1995)
Published in The Lancet (British edition) (21.10.1995)
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Journal Article
In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy
Berry, Gerard T., Hunter, Jill V., Wang, Zhiyue, Dreha, Steffi, Mazur, Alice, Brooks, David G., Ning, Cong, Zimmerman, Robert A., Segal, Stanton
Published in The Journal of pediatrics (01.02.2001)
Published in The Journal of pediatrics (01.02.2001)
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Journal Article
Early diagnosis of juvenile renal osteodystrophy
Norman, Michael E., Mazur, Alice T., Borden, Spencer, Gruskin, Alan, Anast, Constantine, Baron, Roland, Rasmussen, Howard
Published in The Journal of pediatrics (01.08.1980)
Published in The Journal of pediatrics (01.08.1980)
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Journal Article
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia
Palmieri, Michael, Mazur, Alice, Berry, Gerard T., Ning, Cong, Wehrli, Suzanne, Yager, Claire, Reynolds, Robert, Singh, Rani, Muralidharan, Kasinathan, Langley, Sharon, Elsas, Louis, Segal, Stanton
Published in Metabolism, clinical and experimental (01.10.1999)
Published in Metabolism, clinical and experimental (01.10.1999)
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Journal Article
Painful keratoderma and photophobia: Hallmarks of tyrosinemia type II
Rabinowitz, Linda G., Williams, Lynn R., Anderson, Carol E., Mazur, Alice, Kaplan, Paige
Published in The Journal of pediatrics (01.02.1995)
Published in The Journal of pediatrics (01.02.1995)
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Journal Article
Intellectual outcome in children with maple syrup urine disease
Kaplan, Paige, Mazur, Alice, Field, Maxine, Berlin, Jesse A., Berry, Gerard T., Heidenreich, Randall, Yudkoff, Marc, Segal, Stanton
Published in The Journal of pediatrics (01.07.1991)
Published in The Journal of pediatrics (01.07.1991)
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Journal Article
Sugar nucleotide concentrations in red blood cells of patients on protein- and lactose-limited diets: effect of galactose supplementation
Gibson, JB, Berry, GT, Palmieri, MJ, Reynolds, RA, Mazur, AT, Segal, S
Published in The American journal of clinical nutrition (01.05.1996)
Published in The American journal of clinical nutrition (01.05.1996)
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Journal Article
Branched-Chain Amino Acid-Free Parenteral Nutrition in the Treatment of Acute Metabolic Decompensation in Patients with Maple Syrup Urine Disease
Berry, Gerard T, Heidenreich, Randall, Kaplan, Paige, Levine, Frederick, Mazur, Alice, Palmieri, Michael J, Yudkoff, Marc, Segal, Stanton
Published in The New England journal of medicine (17.01.1991)
Published in The New England journal of medicine (17.01.1991)
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Journal Article
Brief Report: Branched-Chain Amino Acid-Free Parenteral Nutrition in the Treatment of Acute Metabolic Decompensation in Patients with Maple Syrup Urine Disease
Berry, Gerard T, Heidenreich, Randall, Kaplan, Paige, Levine, Frederick, Mazur, Alice, Palmieri, Michael J, Yudkoff, Marc, Segal, Stanton
Published in The New England journal of medicine (17.01.1991)
Published in The New England journal of medicine (17.01.1991)
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Journal Article
Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3
Rasmussen, H, Pechet, M, Anast, C, Mazur, A, Gertner, J, Broadus, A E
Published in The Journal of pediatrics (01.07.1981)
Published in The Journal of pediatrics (01.07.1981)
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Journal Article
In Vivo Oxidation of [13C]Galactose in Patients with Galactose-1-Phosphate Uridyltransferase Deficiency
Berry, G.T., Nissim, I., Mazur, A.T., Elsas, L.J., Singh, R.H., Klein, P.D., Gibson, J.B., Lin, Z.P., Segal, S.
Published in Biochemical and molecular medicine (01.12.1995)
Published in Biochemical and molecular medicine (01.12.1995)
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