-
1
-
-
0017492041
-
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro
-
Bartholome K., Byrd D.J., Kaufman S. & Milstein S. (1977) Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics 59, 757-61.
-
(1977)
Pediatrics
, vol.59
, pp. 757-761
-
-
Bartholome, K.1
Byrd, D.J.2
Kaufman, S.3
Milstein, S.4
-
2
-
-
0002756708
-
Tetrahydrobiopterin deficiency: From phenotype to genotype
-
Blau N., Thony B., Heizmann C.W. & Dhondt J.L. (1993) Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4, 1-10.
-
(1993)
Pteridines
, vol.4
, pp. 1-10
-
-
Blau, N.1
Thony, B.2
Heizmann, C.W.3
Dhondt, J.L.4
-
3
-
-
0018050753
-
Malignant hyperphenylalaninaemia - Current status
-
Danks D.M., Bartholome K., Clayton B.E., Curtius H., Groebe H., Kaufman S., Leeming R., Pfleiderer W., Rembold H. & Rey F. (1978) Malignant hyperphenylalaninaemia - current status. Journal of Inherited Metabolic Disease I, 49-53.
-
(1978)
Journal of Inherited Metabolic Disease
, vol.1
, pp. 49-53
-
-
Danks, D.M.1
Bartholome, K.2
Clayton, B.E.3
Curtius, H.4
Groebe, H.5
Kaufman, S.6
Leeming, R.7
Pfleiderer, W.8
Rembold, H.9
Rey, F.10
-
5
-
-
1842408445
-
Uber ausscheidung von phenylbrenztrauben saure in den tarn als stoffwechselanomalie in verbindung mit imbezillitat
-
eds A. Emery & D. Rimoin, Churchill Livingstone
-
Følling A. (1934) Uber ausscheidung von phenylbrenztrauben saure in den tarn als stoffwechselanomalie in verbindung mit imbezillitat. In: Principles and Practice of Medical Genetics (eds A. Emery & D. Rimoin), p. 1639. Churchill Livingstone.
-
(1934)
Principles and Practice of Medical Genetics
, pp. 1639
-
-
Følling, A.1
-
6
-
-
0027313456
-
Abnormalities of biogenic amine metabolism
-
Hyland K. (1993) Abnormalities of biogenic amine metabolism. Journal of Inherited Metabolic Disease 16, 676-90.
-
(1993)
Journal of Inherited Metabolic Disease
, vol.16
, pp. 676-690
-
-
Hyland, K.1
-
7
-
-
0028300930
-
Possible high frequency of tetrahydrobiopterin deficiency in South Brazil
-
Jardim L.B., Giugliani R., Coelho J.C., Dutra-Filho C.S. & Blau N. (1994) Possible high frequency of tetrahydrobiopterin deficiency in South Brazil. Journal of Inherited Metabolic Disease 17, 223-9.
-
(1994)
Journal of Inherited Metabolic Disease
, vol.17
, pp. 223-229
-
-
Jardim, L.B.1
Giugliani, R.2
Coelho, J.C.3
Dutra-Filho, C.S.4
Blau, N.5
-
8
-
-
0016751402
-
Phenylketonuria due to a deficiency of dihydropteridine reductase
-
Kaufman S., Holtzman N.A., Milstien S., Butler I. J. & Krumholz A. (1975) Phenylketonuria due to a deficiency of dihydropteridine reductase. New England Journal of Medicine 293, 785-90.
-
(1975)
New England Journal of Medicine
, vol.293
, pp. 785-790
-
-
Kaufman, S.1
Holtzman, N.A.2
Milstien, S.3
Butler, I.J.4
Krumholz, A.5
-
9
-
-
0018170113
-
Hyperphenylalaninaemia due to a deficiency of biopterin
-
Kaufman S., Berlow S., Summer G. K., Milstien S., Schulman J. D., Orloff S., Spielberg S. & Pueschel S. (1978) Hyperphenylalaninaemia due to a deficiency of biopterin. New England Journal of Medicine 299, 673-9.
-
(1978)
New England Journal of Medicine
, vol.299
, pp. 673-679
-
-
Kaufman, S.1
Berlow, S.2
Summer, G.K.3
Milstien, S.4
Schulman, J.D.5
Orloff, S.6
Spielberg, S.7
Pueschel, S.8
-
10
-
-
1842413719
-
Regulatory properties of pterin-dependent hydroxylase: Variations on a theme
-
eds J.K. Lloyd & C.R. Scriver, Butterworths International Medical Reviews, London
-
Kaufman S. (1981) Regulatory properties of pterin-dependent hydroxylase: variations on a theme. In: Genetic and Metabolic Disease in Pediatrics (eds J.K. Lloyd & C.R. Scriver), pp. 170-1. Butterworths International Medical Reviews, London.
-
(1981)
Genetic and Metabolic Disease in Pediatrics
, pp. 170-171
-
-
Kaufman, S.1
-
11
-
-
0025959724
-
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns
-
Lipson A.H., Earl J.W., Wilcken B., Yu J.S., O'Halloran M. & Cotton R.G.H. (1991) Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. Journal of Inherited Metabolic Disease 14, 49-52.
-
(1991)
Journal of Inherited Metabolic Disease
, vol.14
, pp. 49-52
-
-
Lipson, A.H.1
Earl, J.W.2
Wilcken, B.3
Yu, J.S.4
O'Halloran, M.5
Cotton, R.G.H.6
-
14
-
-
1842293404
-
GTP-cyclohydrolase deficiency
-
eds J.K. Lloyd & C.R. Scriver, Butterworths International Medical Reviews, London
-
Niederwieser A., Blau N., Wang M., Joller P., Atares M. & Cardesa-Garcia J. (1984) GTP-cyclohydrolase deficiency. In: Genetic and Metabolic Disease in Pediatrics (eds J.K. Lloyd & C.R. Scriver), p. 198. Butterworths International Medical Reviews, London.
-
(1984)
Genetic and Metabolic Disease in Pediatrics
, pp. 198
-
-
Niederwieser, A.1
Blau, N.2
Wang, M.3
Joller, P.4
Atares, M.5
Cardesa-Garcia, J.6
-
15
-
-
0009691291
-
Disorders of amino acid metabolism
-
eds A. Emery & D. Rimoin, Churchill Livingstone, Edinburgh
-
Scott C.R. & Cederbaum S.D. (1990) Disorders of amino acid metabolism. In: Principles and Practice of Medical Genetics, 2nd edn (eds A. Emery & D. Rimoin), pp. 1639-73. Churchill Livingstone, Edinburgh.
-
(1990)
Principles and Practice of Medical Genetics, 2nd Edn
, pp. 1639-1673
-
-
Scott, C.R.1
Cederbaum, S.D.2
-
16
-
-
0016855406
-
A new variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction
-
Smith I., Clayton B.E. & Wolff O.H. (1975) A new variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet i, 1108-11.
-
(1975)
Lancet
, vol.1
, pp. 1108-1111
-
-
Smith, I.1
Clayton, B.E.2
Wolff, O.H.3
-
17
-
-
0025353640
-
Dihydropteridine reductase activity in eluates from dried blood spots: Automation of an assay for a national screening service
-
Surplice I.M., Griffiths P.D., Green A. & Leeming R.J. (1990) Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service. Journal of Inherited Metabolic Disease 13, 169-77.
-
(1990)
Journal of Inherited Metabolic Disease
, vol.13
, pp. 169-177
-
-
Surplice, I.M.1
Griffiths, P.D.2
Green, A.3
Leeming, R.J.4
|