-
1
-
-
0000059155
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet AL, Sly WS, Valle V (eds) McGraw-Hill, New York
-
Scriver CR, Kaufman S, Eisensmith R, Woo SL 1995 The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle V (eds) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. McGraw-Hill, New York, pp 1015-1075
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.3
Woo, S.L.4
-
2
-
-
0030754908
-
PAH mutation analysis consortium Database: A database for disease-producing and other allelic variation at the human PAH locus
-
Nowacki P, Byck S, Prevost L, Scriver CR (curators) 1997 PAH mutation analysis consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 25:139-142
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 139-142
-
-
Nowacki, P.1
Byck, S.2
Prevost, L.3
Scriver, C.R.4
-
3
-
-
0027270101
-
Comparison of genotype and intellectual phenotype in untreated PKU patients
-
Ramus SJ, Forrest S, Pitt DB, Saleeba JA, Cotton RGH 1993 Comparison of genotype and intellectual phenotype in untreated PKU patients. J Med Genet 30:401-405
-
(1993)
J Med Genet
, vol.30
, pp. 401-405
-
-
Ramus, S.J.1
Forrest, S.2
Pitt, D.B.3
Saleeba, J.A.4
Cotton, R.G.H.5
-
4
-
-
0021932927
-
Normal plasma free amino acid values in adults: The influence of some common physiological variables
-
Scriver CR, Gregory DM, Sovetts D, Tissenbaum G 1985 Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism 34:868-873
-
(1985)
Metabolism
, vol.34
, pp. 868-873
-
-
Scriver, C.R.1
Gregory, D.M.2
Sovetts, D.3
Tissenbaum, G.4
-
5
-
-
0008956323
-
Phenylketonuria and Hyperphenylalaninaemia
-
Fernandes J. Saudubray J-M, Tada K (eds) Springer-Verlag, Berlin
-
Guttler F, Lou H 1990 Phenylketonuria and Hyperphenylalaninaemia. In: Fernandes J. Saudubray J-M, Tada K (eds) Inborn Metabolic Diseases: Diagnosis and Treatment. Springer-Verlag, Berlin, pp 161-174
-
(1990)
Inborn Metabolic Diseases: Diagnosis and Treatment
, pp. 161-174
-
-
Guttler, F.1
Lou, H.2
-
7
-
-
0027533685
-
Recommendations on the dietary management of phenylketonuria
-
Medical Research Council, UK Working Party on Phenylketonuria 1993 Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68:426-427
-
(1993)
Arch Dis Child
, vol.68
, pp. 426-427
-
-
-
8
-
-
0028710326
-
Mutations in the phenylalanine hydroxylase gene: Methods for their characterization
-
Guldherg P, Guttler F 1994 Mutations in the phenylalanine hydroxylase gene: methods for their characterization. Acta Paediatr Suppl. 83(suppl407):27-33
-
(1994)
Acta Paediatr Suppl.
, vol.83
, Issue.407 SUPPL.
, pp. 27-33
-
-
Guldherg, P.1
Guttler, F.2
-
9
-
-
0014854249
-
14C]pyryvate in normal, acrotnegalic and HGH-treated human subjects
-
14C]pyryvate in normal, acrotnegalic and HGH-treated human subjects. Acta Endocrinol 65:155-169
-
(1970)
Acta Endocrinol
, vol.65
, pp. 155-169
-
-
Shreve, W.W.1
Cerasi, E.2
Luft, R.3
-
10
-
-
0017864678
-
Geometric method of measuring body surface areas. a height-weight formula validated in infants, children and adults
-
Haycock GB, Schwartz GJ, Wisotsky DH 1978 Geometric method of measuring body surface areas. A height-weight formula validated in infants, children and adults. J Pediatr 93:62-66
-
(1978)
J Pediatr
, vol.93
, pp. 62-66
-
-
Haycock, G.B.1
Schwartz, G.J.2
Wisotsky, D.H.3
-
11
-
-
0014421994
-
Heterogeneity in genetic control of phenylalanine metabolism in man
-
Rosenblatt D, Scriver CR 1968 Heterogeneity in genetic control of phenylalanine metabolism in man. Nature 218:677-678
-
(1968)
Nature
, vol.218
, pp. 677-678
-
-
Rosenblatt, D.1
Scriver, C.R.2
-
12
-
-
0015975853
-
The use of biochemical data in screening for mutant alleles and in genetic counselling
-
Gold RJM, Maag UR, Neal JL, Scriver CR 1974 The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet 37:315-326
-
(1974)
Ann Hum Genet
, vol.37
, pp. 315-326
-
-
Gold, R.J.M.1
Maag, U.R.2
Neal, J.L.3
Scriver, C.R.4
-
13
-
-
0025855241
-
Molecular basis of phenotypic heterogeneity in phenylketonuria
-
Okano Y, Eisensmith RC, Guttler F, Lichter-Konecki U, Konecki D, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H, Woo SLC 1991 Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 324:1232-1236
-
(1991)
N Engl J Med
, vol.324
, pp. 1232-1236
-
-
Okano, Y.1
Eisensmith, R.C.2
Guttler, F.3
Lichter-Konecki, U.4
Konecki, D.5
Trefz, F.K.6
Dasovich, M.7
Wang, T.8
Henriksen, K.9
Lou, H.10
Slc, W.11
-
15
-
-
0029870179
-
Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population
-
Eisensmith RC, Martinez DR, Kuzmin AI, Gollsov AA, Brown A, Singh R, Elsas II, LJ, Woo SLC 1996 Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics 97:512-516
-
(1996)
Pediatrics
, vol.97
, pp. 512-516
-
-
Eisensmith, R.C.1
Martinez, D.R.2
Kuzmin, A.I.3
Gollsov, A.A.4
Brown, A.5
Singh, R.6
Elsas L.J. II7
Woo, S.L.C.8
-
16
-
-
0027390018
-
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
-
Svensson E, Dobeln U, Eisensmith RC, Hagenfeldt L, Woo LSC 1992 Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr 152:132-139
-
(1992)
Eur J Pediatr
, vol.152
, pp. 132-139
-
-
Svensson, E.1
Dobeln, U.2
Eisensmith, R.C.3
Hagenfeldt, L.4
Woo, L.S.C.5
-
17
-
-
0028817723
-
Phenylalanine and tyrosine kinetics in young men throughout a continuous 24-h period, at a low phenylalanine intake
-
Sanchez M, EL-Khoury AE, Castillo L, Chapman TE, Young VR 1995 Phenylalanine and tyrosine kinetics in young men throughout a continuous 24-h period, at a low phenylalanine intake. Am J Clin Nutr 61:555-570
-
(1995)
Am J Clin Nutr
, vol.61
, pp. 555-570
-
-
Sanchez, M.1
El-Khoury, A.E.2
Castillo, L.3
Chapman, T.E.4
Young, V.R.5
-
18
-
-
0019974496
-
13C]tyrosine in the postabsorptive state
-
13C]tyrosine in the postabsorptive state. Metabolism 31:999-1005
-
(1982)
Metabolism
, vol.31
, pp. 999-1005
-
-
Clarke, J.1
Bier, D.M.2
-
19
-
-
0025313161
-
Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria
-
Thompson GN, Halliday P 1990 Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria. J Clin Invest 80:317-322
-
(1990)
J Clin Invest
, vol.80
, pp. 317-322
-
-
Thompson, G.N.1
Halliday, P.2
-
20
-
-
0018568241
-
Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero-L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography
-
Trefz FK, Erlenmaier T, Hunneman DH, Bartholomé K, Lutz P 1979 Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero-L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography. Clin Chim Acta 99:211-230
-
(1979)
Clin Chim Acta
, vol.99
, pp. 211-230
-
-
Trefz, F.K.1
Erlenmaier, T.2
Hunneman, D.H.3
Bartholomé, K.4
Lutz, P.5
-
21
-
-
0029792599
-
In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings
-
Treacy EP, Pitt JJ, Sellar K, Thompson GN, Ramus S, Cotton RGH 1996 In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings. J Inherit Metab Dis 19:595-602
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 595-602
-
-
Treacy, E.P.1
Pitt, J.J.2
Sellar, K.3
Thompson, G.N.4
Ramus, S.5
Rgh, C.6
-
23
-
-
0022552607
-
Quantification of the importance of individual steps in the control of aromatic amino acid metabolism
-
Salter M, Knowles RG, Pogson CI 1986 Quantification of the importance of individual steps in the control of aromatic amino acid metabolism. Biochem J 234:635-647
-
(1986)
Biochem J
, vol.234
, pp. 635-647
-
-
Salter, M.1
Knowles, R.G.2
Pogson, C.I.3
-
26
-
-
0016707505
-
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninaemia
-
Bartholomé K, Lutz P, Bickel H 1975 Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninaemia. Pediatr Res 9:899-903
-
(1975)
Pediatr Res
, vol.9
, pp. 899-903
-
-
Bartholomé, K.1
Lutz, P.2
Bickel, H.3
-
27
-
-
0016702722
-
Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: Deviation from proportionality with gene dosage
-
Kaufman S, Max E, Kang ES 1975 Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: deviation from proportionality with gene dosage. Pediatr Res 9:6.32-634
-
(1975)
Pediatr Res
, vol.9
, pp. 632-634
-
-
Kaufman, S.1
Max, E.2
Kang, E.S.3
-
28
-
-
0019869334
-
The molecular basis of dominance
-
Kacser H, Burns JA 1981 The molecular basis of dominance. Genetics 97:639-666
-
(1981)
Genetics
, vol.97
, pp. 639-666
-
-
Kacser, H.1
Burns, J.A.2
-
29
-
-
0031472356
-
Human PAH mutation and hyperphenylalaninemia phenotypes: A meta-analysis of genotype-phenotype correlations
-
in press
-
Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR 1997 Human PAH mutation and hyperphenylalaninemia phenotypes: a meta-analysis of genotype-phenotype correlations. Am J Hum Genet (in press)
-
(1997)
Am J Hum Genet
-
-
Kayaalp, E.1
Treacy, E.2
Waters, P.J.3
Byck, S.4
Nowacki, P.5
Scriver, C.R.6
-
30
-
-
0029971221
-
Hyperglucagonemia stimulates phenylalanine oxidation in humans
-
Tessari P, Inchiostro S, Barazzoni R, Zanetti M, Vettore M, Biolo G, Iori E, Kiwanuka E, Tiengo A 1996 Hyperglucagonemia stimulates phenylalanine oxidation in humans. Diabetes 45:463-470
-
(1996)
Diabetes
, vol.45
, pp. 463-470
-
-
Tessari, P.1
Inchiostro, S.2
Barazzoni, R.3
Zanetti, M.4
Vettore, M.5
Biolo, G.6
Iori, E.7
Kiwanuka, E.8
Tiengo, A.9
|