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Results: 1-25/31
Authors:
Rohr, FJ
Munier, AW
Levy, HL
Citation: Fj. Rohr et al., Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuria, J INH MET D, 24(6), 2001, pp. 623-630
Authors:
Albers, S
Levy, HL
Irons, M
Strauss, AW
Marsden, D
Citation: S. Albers et al., Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 24(3), 2001, pp. 417-418
Authors:
Albers, S
Waisbren, SE
Ampola, MG
Brewster, TG
Burke, LW
Demmer, LA
Filiano, J
Greenstein, RMG
Ingham, CL
Korson, MS
Marsden, D
Schwartz, RC
Seashore, MR
Shih, VE
Levy, HL
Citation: S. Albers et al., New England Consortium: A model for medical evaluation of expanded newbornscreening with tandem mass spectrometry, J INH MET D, 24(2), 2001, pp. 303-304
Authors:
Albers, S
Marsden, D
Quackenbush, E
Stark, AR
Levy, HL
Irons, M
Citation: S. Albers et al., Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry, PEDIATRICS, 107(6), 2001, pp. NIL_97-NIL_100
Authors:
Albers, S
Levy, HL
Citation: S. Albers et Hl. Levy, One more thought on sudden infant death syndrome, PEDIATRICS, 107(4), 2001, pp. 809-809
Authors:
Levy, HL
Guldberg, P
Guttler, F
Hanley, WB
Matalon, R
Rouse, BM
Trefz, E
Azen, C
Allred, EN
de la Cruz, F
Koch, R
Citation: Hl. Levy et al., Congenital heart disease in maternal phenylketonuria: Report from the Maternal PKU Collaborative Study, PEDIAT RES, 49(5), 2001, pp. 636-642
Authors:
Kalser, LR
Robr, FJ
Strauss, KA
Korson, MS
Levy, HL
Citation: Lr. Kalser et al., Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levelsand presumptive brain influx of tyrosine and other large neutral amino acids, J PEDIAT, 139(3), 2001, pp. 421-427
Authors:
Levy, HL
Albers, S
Citation: Hl. Levy et S. Albers, Genetic screening of newborns, ANN REV GEN, 1, 2000, pp. 139-177
Authors:
Levy, HL
Citation: Hl. Levy, Comments on final intelligence in late treated patients with phenylketonuria, EUR J PED, 159, 2000, pp. S149-S149
Authors:
Varvogli, L
Repetto, GM
Waisbren, SE
Levy, HL
Citation: L. Varvogli et al., High cognitive outcome in an adolescent with mut(-) methylmalonic acidemia, AM J MED G, 96(2), 2000, pp. 192-195
Authors:
Kim, SZ
Kupke, KG
Ierardi-Curto, L
Holme, E
Greter, J
Tanguay, RM
Poudrier, J
D'Astous, M
Lettre, F
Hahn, SH
Levy, HL
Citation: Sz. Kim et al., Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I, J INH MET D, 23(8), 2000, pp. 791-804
Authors:
Cataltepe, S
van Marter, LJ
Kozakewich, H
Wessel, DL
Lee, PJ
Levy, HL
Citation: S. Cataltepe et al., Pulmonary hypertension associated with nonketotic hyperglycinaemia, J INH MET D, 23(2), 2000, pp. 137-144
Authors:
Waisbren, SE
Hanley, W
Levy, HL
Shifrin, H
Allred, E
Azen, C
Chang, PN
Cipcic-Schmidt, S
de la Cruz, F
Hall, R
Matalon, R
Nanson, J
Rouse, B
Trefz, F
Koch, R
Citation: Se. Waisbren et al., Outcome at age 4 years in offspring of women with maternal phenylketonuria- The maternal PKU collaborative study, J AM MED A, 283(6), 2000, pp. 756-762
Authors:
Tangerman, A
Wilcken, B
Levy, HL
Boers, GHJ
Mudd, SH
Citation: A. Tangerman et al., Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency, METABOLISM, 49(8), 2000, pp. 1071-1077
Authors:
Mudd, SH
Jenden, DJ
Capdevila, A
Roch, M
Levy, HL
Wagner, C
Citation: Sh. Mudd et al., Isolated hypermethioninemia: Measurements of S-adenosylmethionine and choline, METABOLISM, 49(12), 2000, pp. 1542-1547
Authors:
Platt, LD
Koch, R
Hanley, WB
Levy, HL
Matalon, R
Rouse, B
Trefz, F
de la Cruz, F
Guttler, F
Azen, C
Friedman, EG
Citation: Ld. Platt et al., The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study, AM J OBST G, 182(2), 2000, pp. 326-333
Authors:
Chamberlin, ME
Ubagai, T
Mudd, SH
Thomas, J
Pao, VY
Nguyen, TK
Levy, HL
Greene, C
Freehauf, C
Chou, JY
Citation: Me. Chamberlin et al., Methionine adenosyltransferase I/III deficiency: Novel mutations and clinical variations, AM J HU GEN, 66(2), 2000, pp. 347-355
Authors:
Dougherty, FE
Levy, HL
Citation: Fe. Dougherty et Hl. Levy, Present newborn screening for phenylketonuria, MENT RET D, 5(2), 1999, pp. 144-149
Authors:
Scherer-Oppliger, T
Matasovic, A
Laufs, S
Levy, HL
Quackenbush, EJ
Blau, N
Thony, B
Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (vol 13, pg 286, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86
Authors:
Scherer-Oppliger, T
Matasovic, A
Laufs, S
Levy, HL
Quackenbush, EJ
Blau, N
Thony, B
Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia, HUM MUTAT, 13(4), 1999, pp. 286-289
Authors:
Jackson, AH
Applegarth, DA
Toone, JR
Kure, S
Levy, HL
Citation: Ah. Jackson et al., Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio, J CHILD NEU, 14(7), 1999, pp. 464-467
Authors:
Evans, MI
Levy, HL
Citation: Mi. Evans et Hl. Levy, The future of newborn screening belongs to obstetricians, ACT PAEDIAT, 88, 1999, pp. 55-57
Authors:
Quackenbush, EJ
Kraemer, KH
Gahl, WA
Schirch, V
Whiteman, DAH
Levine, K
Levy, HL
Citation: Ej. Quackenbush et al., Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum, J INH MET D, 22(8), 1999, pp. 915-924
Authors:
Guttler, F
Azen, C
Guldberg, P
Romstad, A
Hanley, WB
Levy, HL
Matalon, R
Rouse, BM
Trefz, F
de la Cruz, F
Koch, R
Citation: F. Guttler et al., Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenylketonuria Collaborative Study, PEDIATRICS, 104(2), 1999, pp. 258-262
Authors:
Peterschmitt, MJ
Simmons, JR
Levy, HL
Citation: Mj. Peterschmitt et al., Reduction of false negative results in screening of newborns for homocystinuria., N ENG J MED, 341(21), 1999, pp. 1572-1576