-
1
-
-
84941432771
-
Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanormalie in Verbindung mit Imbezillitat
-
Folling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanormalie in Verbindung mit Imbezillitat. Hoppe Seylers Z Physiol Chem. 1934;169-76.
-
(1934)
Hoppe Seylers Z Physiol Chem
, pp. 169-176
-
-
Uber, F.A.1
-
2
-
-
0021344054
-
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
-
Niederwieser A, Blau N, Wang M, Joller P, Atares M, Cardesa-Garcia J. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr. 1984;141:208-14.
-
(1984)
Eur J Pediatr
, vol.141
, pp. 208-214
-
-
Niederwieser, A.1
Blau, N.2
Wang, M.3
Joller, P.4
Atares, M.5
Cardesa-Garcia, J.6
-
3
-
-
0021798261
-
Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver
-
Niederwieser A, Leimbacher W, Curtius HC, Ponzone A, Rey F, Leupold D. Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver. Eur J Pediatr. 1985;144:13-6.
-
(1985)
Eur J Pediatr
, vol.144
, pp. 13-16
-
-
Niederwieser, A.1
Leimbacher, W.2
Curtius, H.C.3
Ponzone, A.4
Rey, F.5
Leupold, D.6
-
4
-
-
0024117709
-
New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins
-
Blau N, Dhondt JL, Guibaud P, Kuster T, Curtius HC. New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins. Eur J Pediatr. 1988;148:176.
-
(1988)
Eur J Pediatr
, vol.148
, pp. 176
-
-
Blau, N.1
Dhondt, J.L.2
Guibaud, P.3
Kuster, T.4
Curtius, H.C.5
-
5
-
-
0016751402
-
Phenylketonuria due to a deficiency of dihydropteridine reductase
-
Kaufman S, Holtzman NA, Milstien S, Butler LJ, Krumholz A. Phenylketonuria due to a deficiency of dihydropteridine reductase. N Engl J Med. 1975;293:785-90.
-
(1975)
N Engl J Med
, vol.293
, pp. 785-790
-
-
Kaufman, S.1
Holtzman, N.A.2
Milstien, S.3
Butler, L.J.4
Krumholz, A.5
-
6
-
-
0000138089
-
Disorders of tetrahydrobiopterin and related biogenic amines
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York: McGraw-Hill;
-
Blau N, Thony B, Cotton RG, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 1725-76.
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 1725-1776
-
-
Blau, N.1
Thony, B.2
Cotton, R.G.3
Hyland, K.4
-
7
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
-
Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001;74:172-85.
-
(2001)
Mol Genet Metab
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thony, B.3
-
8
-
-
0034928621
-
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001;69:269-77.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 269-277
-
-
Bonafe, L.1
Thony, B.2
Penzien, J.M.3
Czarnecki, B.4
Blau, N.5
-
9
-
-
0033010601
-
Neurochemistry and defects of biogenic amine neurotransmitter metabolism
-
Hyland K. Neurochemistry and defects of biogenic amine neurotransmitter metabolism. J Inherit Metab Dis. 1999;22:353-63.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 353-363
-
-
Hyland, K.1
-
10
-
-
0002041818
-
Dopa-responsive dystonia: Clinical characteristics and definitions
-
Segawa M, editor, Lancaster UK, Parthenon;
-
Nygaard TG, Snow BJ, Fahn S, Calne DB. Dopa-responsive dystonia: clinical characteristics and definitions. In: Segawa M, editor. Hereditary progressive dystonia with marked diurnal fluctuation. Lancaster (UK): Parthenon; 1993. p. 3-13.
-
(1993)
Hereditary progressive dystonia with marked diurnal fluctuation
, pp. 3-13
-
-
Nygaard, T.G.1
Snow, B.J.2
Fahn, S.3
Calne, D.B.4
-
11
-
-
29644434457
-
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
-
Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Moller LB, Hedrich K, et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry. 2006;77:18-23.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 18-23
-
-
Van Hove, J.L.1
Steyaert, J.2
Matthijs, G.3
Legius, E.4
Theys, P.5
Wevers, R.6
Romstad, A.7
Moller, L.B.8
Hedrich, K.9
-
12
-
-
0031926568
-
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
-
Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol. 1998;44:10-6.
-
(1998)
Ann Neurol
, vol.44
, pp. 10-16
-
-
Furukawa, Y.1
Kish, S.J.2
Bebin, E.M.3
Jacobson, R.D.4
Fryburg, J.S.5
Wilson, W.G.6
Shimadzu, M.7
Hyland, K.8
Trugman, J.M.9
-
13
-
-
0026072264
-
Some metabolic relationships between biopterin and folate: Implications for the "methyl trap hypothesis
-
Kaufman S. Some metabolic relationships between biopterin and folate: implications for the "methyl trap hypothesis". Neurochem Res. 1991;16:1031-6.
-
(1991)
Neurochem Res
, vol.16
, pp. 1031-1036
-
-
Kaufman, S.1
-
14
-
-
0002920403
-
Disorders of phenylalanine and tetrahydrobiopterin metabolism
-
Blau N, Duran M, Blaskovics M, Gibson KM, editors, 2nd ed. Berlin: Springer;
-
Blau N, Bonafe L, Blaskovics M. Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Blaskovics M, Gibson KM, editors. Physician's guide to the laboratory diagnosis of metabolic diseases. 2nd ed. Berlin: Springer; 2002. p. 91-106.
-
(2002)
Physician's guide to the laboratory diagnosis of metabolic diseases
, pp. 91-106
-
-
Blau, N.1
Bonafe, L.2
Blaskovics, M.3
-
15
-
-
17144432891
-
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
-
Hoffmann GF, Assmann B, Brautigam C, Dionisi-Vici C, Haussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54 Suppl 6:S56-65.
-
(2003)
Ann Neurol
, vol.54
, Issue.SUPPL. 6
-
-
Hoffmann, G.F.1
Assmann, B.2
Brautigam, C.3
Dionisi-Vici, C.4
Haussler, M.5
de Klerk, J.B.6
Naumann, M.7
Steenbergen-Spanjers, G.C.8
Strassburg, H.M.9
-
16
-
-
0042868556
-
Aromatic L-amino acid decarboxylase deficiency: Overview of clinical features and outcomes
-
Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol. 2003;54 Suppl 6:S49-55.
-
(2003)
Ann Neurol
, vol.54
, Issue.SUPPL. 6
-
-
Swoboda, K.J.1
Saul, J.P.2
McKenna, C.E.3
Speller, N.B.4
Hyland, K.5
-
17
-
-
0031927867
-
Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
-
Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis. 1998;21:240-2.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 240-242
-
-
Abeling, N.G.1
van Gennip, A.H.2
Barth, P.G.3
van Cruchten, A.4
Westra, M.5
Wijburg, F.A.6
-
18
-
-
0013430289
-
Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiency
-
Burlina AB, Burlina AP, Hyland K, Bonafe L, Blau N. Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiency. J Inherit Metab Dis. 2001;24 Suppl 1:34.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 1
, pp. 34
-
-
Burlina, A.B.1
Burlina, A.P.2
Hyland, K.3
Bonafe, L.4
Blau, N.5
-
19
-
-
20244367772
-
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
-
Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet. 2005;14:1077-86.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1077-1086
-
-
Mills, P.B.1
Surtees, R.A.2
Champion, M.P.3
Beesley, C.E.4
Dalton, N.5
Scambler, P.J.6
Heales, S.J.7
Briddon, A.8
Scheimberg, I.9
-
20
-
-
0038244051
-
Neonatal epileptic encephalopathy
-
Clayton PT, Surtees RA, DeVile C, Hyland K, Heales SJ. Neonatal epileptic encephalopathy. Lancet. 2003;361:1614.
-
(2003)
Lancet
, vol.361
, pp. 1614
-
-
Clayton, P.T.1
Surtees, R.A.2
DeVile, C.3
Hyland, K.4
Heales, S.J.5
-
21
-
-
1842580680
-
Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis
-
Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62:1058-65.
-
(2004)
Neurology
, vol.62
, pp. 1058-1065
-
-
Pons, R.1
Ford, B.2
Chiriboga, C.A.3
Clayton, P.T.4
Hinton, V.5
Hyland, K.6
Sharma, R.7
De Vivo, D.C.8
-
22
-
-
1442352384
-
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency
-
Chang YT, Sharma R, Marsh JL, McPherson JD, Bedell JA, Knust A, Brautigam C, Hoffmann GF, Hyland K. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol. 2004;55:435-8.
-
(2004)
Ann Neurol
, vol.55
, pp. 435-438
-
-
Chang, Y.T.1
Sharma, R.2
Marsh, J.L.3
McPherson, J.D.4
Bedell, J.A.5
Knust, A.6
Brautigam, C.7
Hoffmann, G.F.8
Hyland, K.9
-
23
-
-
0343294343
-
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients
-
Brautigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF. The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. J Inherit Metab Dis. 2000;23:321-4.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 321-324
-
-
Brautigam, C.1
Wevers, R.A.2
Hyland, K.3
Sharma, R.K.4
Knust, A.5
Hoffman, G.F.6
-
24
-
-
0027313456
-
Abnormalities of biogenic amine metabolism
-
Hyland K. Abnormalities of biogenic amine metabolism. J Inherit Metab Dis. 1993;16:676-90.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 676-690
-
-
Hyland, K.1
-
25
-
-
0027219375
-
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test
-
Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr. 1993;152:655-61.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 655-661
-
-
Ponzone, A.1
Guardamagna, O.2
Spada, M.3
Ferraris, S.4
Ponzone, R.5
Kierat, L.6
Blau, N.7
-
26
-
-
0022262919
-
Differential diagnosis of tetrahydrobiopterin deficiency
-
Niederwieser A, Ponzone A, Curtius HC. Differential diagnosis of tetrahydrobiopterin deficiency. J Inherit Metab Dis. 1985;8 Suppl 1:34-8.
-
(1985)
J Inherit Metab Dis
, vol.8
, Issue.SUPPL. 1
, pp. 34-38
-
-
Niederwieser, A.1
Ponzone, A.2
Curtius, H.C.3
-
27
-
-
0018345037
-
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency
-
Niederwieser A, Curtius HC, Bettoni O, Bieri J, Schircks B, Viscontini M, Schaub J. Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency. Lancet. 1979;1:131-3.
-
(1979)
Lancet
, vol.1
, pp. 131-133
-
-
Niederwieser, A.1
Curtius, H.C.2
Bettoni, O.3
Bieri, J.4
Schircks, B.5
Viscontini, M.6
Schaub, J.7
-
28
-
-
0023909879
-
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia
-
Curtius HC, Kuster T, Matasovic A, Blau N, Dhondt JL. Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun. 1988;153:715-21.
-
(1988)
Biochem Biophys Res Commun
, vol.153
, pp. 715-721
-
-
Curtius, H.C.1
Kuster, T.2
Matasovic, A.3
Blau, N.4
Dhondt, J.L.5
-
29
-
-
28844468449
-
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin
-
Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N. Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab. 2005;86 Suppl 1:S75-80.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
-
-
Trefz, F.K.1
Scheible, D.2
Frauendienst-Egger, G.3
Korall, H.4
Blau, N.5
-
30
-
-
0030898773
-
Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test
-
Hyland K, Fryburg JS, Wilson WG, Bebin EM, Arnold LA, Gunasekera RS, Jacobson RD, Rost-Ruffner E, Trugman JM. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology. 1997;48:1290-7.
-
(1997)
Neurology
, vol.48
, pp. 1290-1297
-
-
Hyland, K.1
Fryburg, J.S.2
Wilson, W.G.3
Bebin, E.M.4
Arnold, L.A.5
Gunasekera, R.S.6
Jacobson, R.D.7
Rost-Ruffner, E.8
Trugman, J.M.9
-
31
-
-
0035099949
-
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
-
Bonafe L, Thony B, Leimbacher W, Kierat L, Blau N. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem. 2001;47:477-85.
-
(2001)
Clin Chem
, vol.47
, pp. 477-485
-
-
Bonafe, L.1
Thony, B.2
Leimbacher, W.3
Kierat, L.4
Blau, N.5
-
32
-
-
0037214695
-
Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism
-
Van Der Heyden JC, Rotteveel JJ, Wevers RA. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. Eur J Paediatr Neurol. 2003;7:31-7.
-
(2003)
Eur J Paediatr Neurol
, vol.7
, pp. 31-37
-
-
Van Der Heyden, J.C.1
Rotteveel, J.J.2
Wevers, R.A.3
-
33
-
-
0026785903
-
Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
-
Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology. 1992;42:1980-8.
-
(1992)
Neurology
, vol.42
, pp. 1980-1988
-
-
Hyland, K.1
Surtees, R.A.2
Rodeck, C.3
Clayton, P.T.4
-
34
-
-
0001577381
-
Phenylpyruvic oligophrenia deficiency of phenylalanine- oxidizing system
-
Jervis GA. Phenylpyruvic oligophrenia deficiency of phenylalanine- oxidizing system. Proc Soc Exp Biol Med. 1953;82:514-5.
-
(1953)
Proc Soc Exp Biol Med
, vol.82
, pp. 514-515
-
-
Jervis, G.A.1
-
36
-
-
0025027824
-
Aromatic amino acid decarboxylase deficiency in twins
-
Hyland K, Clayton PT. Aromatic amino acid decarboxylase deficiency in twins. J Inherit Metab Dis. 1990;13:301-4.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 301-304
-
-
Hyland, K.1
Clayton, P.T.2
-
37
-
-
0030035985
-
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B, Knappskog PM, Clayton PT, Surtees RA, Clelland JD, Heales SJ, Brand MP, Bartholome K, Flatmark T. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. 1996;5:1023-8.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
Surtees, R.A.4
Clelland, J.D.5
Heales, S.J.6
Brand, M.P.7
Bartholome, K.8
Flatmark, T.9
|