-
1
-
-
33745695582
-
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
-
Abeling NG, Duran M, Bakker HD et al (2006) Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 89:116–120
-
(2006)
Mol Genet Metab
, vol.89
, pp. 116-120
-
-
Abeling, N.G.1
Duran, M.2
Bakker, H.D.3
-
2
-
-
84887457619
-
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia
-
Arnoux JB, Damaj L, Napuri S et al (2013) Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. J Clin Endocrinol Metab 98:4279–4284
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. 4279-4284
-
-
Arnoux, J.B.1
Damaj, L.2
Napuri, S.3
-
3
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa responsive dystonia and sepiapterin reductase deficiency
-
Blau N, Bonafe L, Thöny B (2001) Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 74:172–185
-
(2001)
Mol Genet Metab
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thöny, B.3
-
4
-
-
0034928621
-
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L, Thöny B, Penzien JM et al (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69:169–177
-
(2001)
Am J Hum Genet
, vol.69
, pp. 169-177
-
-
Bonafe, L.1
Thöny, B.2
Penzien, J.M.3
-
5
-
-
78649723150
-
Levodopa-induced dyskinesia is associated with increased thyrotropin releasing hormone in the dorsal striatum of hemi-parkinsonian rats
-
Cantuti-Castelvetri I, Hernandez LF, Keller-McGandy CE et al (2010) Levodopa-induced dyskinesia is associated with increased thyrotropin releasing hormone in the dorsal striatum of hemi-parkinsonian rats. PLoS One 5:e13861
-
(2010)
Plos One
, vol.5
-
-
Cantuti-Castelvetri, I.1
Hernandez, L.F.2
Keller-McGandy, C.E.3
-
6
-
-
0036212322
-
Disruption of the D2 dopamine receptor alters GH and IGF-1 secretion and causes dwarfism in male mice
-
Díaz-Torga G, Feierstein C, Libertun C et al (2002) Disruption of the D2 dopamine receptor alters GH and IGF-1 secretion and causes dwarfism in male mice. Endocrinology 143:1270–1279
-
(2002)
Endocrinology
, vol.143
, pp. 1270-1279
-
-
Díaz-Torga, G.1
Feierstein, C.2
Libertun, C.3
-
7
-
-
84858052269
-
Child neurology: Paroxysmal stiffening, upward gaze and hypotonia: Hallmarks of sepiapterin reductase deficiency
-
Dill P, Wagner M, Sommerville A et al (2012) Child neurology: paroxysmal stiffening, upward gaze and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology 78: e29–e32
-
(2012)
Neurology
, vol.78
, pp. e29-e32
-
-
Dill, P.1
Wagner, M.2
Sommerville, A.3
-
8
-
-
0041344529
-
-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin
-
-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. J Biol Chem 278:28303–28311
-
(2003)
J Biol Chem
, vol.278
, pp. 28303-28311
-
-
Elzaouk, L.1
Leimbacher, W.2
Turri, M.3
-
9
-
-
84860182098
-
Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy
-
Friedman J, Roze E, Abdenur JE et al (2011) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71:520–530
-
(2011)
Ann Neurol
, vol.71
, pp. 520-530
-
-
Friedman, J.1
Roze, E.2
Abdenur, J.E.3
-
10
-
-
0033010601
-
Neurochemistry and defects of biogenic amine neurotransmitter metabolism
-
Hyland K (1999) Neurochemistry and defects of biogenic amine neurotransmitter metabolism. J Inherit Metab Dis 22:353–366
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 353-366
-
-
Hyland, K.1
-
11
-
-
84873570633
-
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency
-
Lee NC, Shieh YD, Chien YH et al (2013) Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. Neurobiol Dis 52:177–190
-
(2013)
Neurobiol Dis
, vol.52
, pp. 177-190
-
-
Lee, N.C.1
Shieh, Y.D.2
Chien, Y.H.3
-
12
-
-
0023519511
-
Dopamine stimulates release of thyrotropin-releasing hormone from per-fused intact rat hypothalamus via hypothalamic D2-receptors
-
Lewis BM, Dieguez C, Lewis MD, Scanlon MF (1987) Dopamine stimulates release of thyrotropin-releasing hormone from per-fused intact rat hypothalamus via hypothalamic D2-receptors. J Endocrinol 115:419–424
-
(1987)
J Endocrinol
, vol.115
, pp. 419-424
-
-
Lewis, B.M.1
Dieguez, C.2
Lewis, M.D.3
Scanlon, M.F.4
-
13
-
-
67349128365
-
Aromatic L-amino acid decarboxylase deficiency: Clinical features, drug therapy and follow-up
-
Manegold C, Hoffmann GF, Degen I et al (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371–380
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 371-380
-
-
Manegold, C.1
Hoffmann, G.F.2
Degen, I.3
-
14
-
-
26044449033
-
Sepiapterin reductase deficiency: A congenital dopa responsive motor and cognitive disorder
-
Neville BGR, Parascandalo R, Farrugia R, Felica A (2005) Sepiapterin reductase deficiency: a congenital dopa responsive motor and cognitive disorder. Brain 128:2291–2296
-
(2005)
Brain
, vol.128
, pp. 2291-2296
-
-
Neville, B.G.R.1
Parascandalo, R.2
Farrugia, R.3
Felica, A.4
-
15
-
-
84875467596
-
Central dopamine D2 receptors regulate growth-hormone-dependent body growth and pheromone signaling to conspecific males
-
Noaín D, Pérez-MillÄn M, Bello EP et al (2013) Central dopamine D2 receptors regulate growth-hormone-dependent body growth and pheromone signaling to conspecific males. J Neurosci 33:5834–5842
-
(2013)
J Neurosci
, vol.33
, pp. 5834-5842
-
-
Noaín, D.1
Pérez-Millän, M.2
Bello, E.P.3
-
16
-
-
79951478032
-
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
-
Opladen T, Hoffmann G, Hörster F et al (2011) Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord 26:157–161
-
(2011)
Mov Disord
, vol.26
, pp. 157-161
-
-
Opladen, T.1
Hoffmann, G.2
Hörster, F.3
-
17
-
-
84867861085
-
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
-
Opladen T, Hoffmann GF, Blau N (2012) An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 35:963–973
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 963-973
-
-
Opladen, T.1
Hoffmann, G.F.2
Blau, N.3
-
19
-
-
69449101918
-
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency
-
Porta F, Mussa A, Concolino D et al (2009) Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. Neurology 73:633–637
-
(2009)
Neurology
, vol.73
, pp. 633-637
-
-
Porta, F.1
Mussa, A.2
Concolino, D.3
-
20
-
-
84858706588
-
Dopamine agonists in dihydropteridine reductase deficiency
-
Porta F, Mussa A, Concolino D et al (2012) Dopamine agonists in dihydropteridine reductase deficiency. Mol Genet Metab 105:582–584
-
(2012)
Mol Genet Metab
, vol.105
, pp. 582-584
-
-
Porta, F.1
Mussa, A.2
Concolino, D.3
-
21
-
-
0026524074
-
Effects of dopamine and somatostatin on pulsatile pituitary glycoprotein secretion
-
Samuels MH, Henry P, Ridgway EC (1992) Effects of dopamine and somatostatin on pulsatile pituitary glycoprotein secretion. J Clin Endocrinol Metab 74:217–222
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 217-222
-
-
Samuels, M.H.1
Henry, P.2
Ridgway, E.C.3
-
22
-
-
79251612080
-
Hereditary progressive dystonia with marked diurnal fluctuation
-
Segawa M (2011) Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 33:195–201
-
(2011)
Brain Dev
, vol.33
, pp. 195-201
-
-
Segawa, M.1
-
23
-
-
0032968781
-
Inborn errors of neurotransmitter receptors
-
Surtees R (1999) Inborn errors of neurotransmitter receptors. J Inherit Metab Dis 22:374–380
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 374-380
-
-
Surtees, R.1
-
24
-
-
33748367238
-
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
-
Thöny B, Blau N (2006) Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 27:870–878
-
(2006)
Hum Mutat
, vol.27
, pp. 870-878
-
-
Thöny, B.1
Blau, N.2
-
25
-
-
33645466943
-
A murine model for human sepiapterin-reductase deficiency
-
Yang S, Lee YJ, Kim JM et al (2006) A murine model for human sepiapterin-reductase deficiency. Am J Hum Genet 78:575–587
-
(2006)
Am J Hum Genet
, vol.78
, pp. 575-587
-
-
Yang, S.1
Lee, Y.J.2
Kim, J.M.3
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