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Results: 1 to 20 of 119

1.

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.

Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB.

Mol Genet Metab. 2004 Nov;83(3):207-12.

PMID:
15542391
[PubMed - indexed for MEDLINE]
2.

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.

Neurology. 1997 May;48(5):1290-7.

PMID:
9153460
[PubMed - indexed for MEDLINE]
3.

The phenylalanine loading test in the differential diagnosis of dystonia.

Bandmann O, Goertz M, Zschocke J, Deuschl G, Jost W, Hefter H, Müller U, Zöfel P, Hoffmann G, Oertel W.

Neurology. 2003 Feb 25;60(4):700-2.

PMID:
12601115
[PubMed - indexed for MEDLINE]
4.

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Opladen T, Hoffmann GF, Kühn AA, Blau N.

Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12.

PMID:
23375473
[PubMed - indexed for MEDLINE]
5.

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Opladen T, Okun JG, Burgard P, Blau N, Hoffmann GF.

J Inherit Metab Dis. 2010 Dec;33(6):697-703. doi: 10.1007/s10545-010-9164-9. Epub 2010 Jul 29. Erratum in: J Inherit Metab Dis. 2010 Dec;33(6):811-2.

PMID:
20668943
[PubMed - indexed for MEDLINE]
6.

[Dopa-responsive dystonia: clinical, genetic, and biochemical studies].

Furukawa Y.

Rinsho Shinkeigaku. 2006 Jan;46(1):19-34. Japanese.

PMID:
16541791
[PubMed - indexed for MEDLINE]
7.

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.

López-Laso E, Ormazabal A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA, Artuch R.

Clin Biochem. 2006 Sep;39(9):893-7. Epub 2006 Apr 19.

PMID:
16624273
[PubMed - indexed for MEDLINE]
8.

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.

Scola RH, Carducci C, Amaral VG, Lorenzoni PJ, Teive HA, Giovanniello T, Werneck LC.

Arq Neuropsiquiatr. 2007 Dec;65(4B):1224-7.

PMID:
18345435
[PubMed - indexed for MEDLINE]
Free Article
9.

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.

Feillet F, Chery C, Namour F, Kimmoun A, Favre E, Lorentz E, Battaglia-Hsu SF, Guéant JL.

Early Hum Dev. 2008 Sep;84(9):561-7. doi: 10.1016/j.earlhumdev.2008.01.003. Epub 2008 Mar 5.

PMID:
18321666
[PubMed - indexed for MEDLINE]
10.

A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.

Kang JH, Kang SY, Kang HK, Koh YS, Im JH, Lee MC.

Brain Dev. 2004 Aug;26(5):287-91.

PMID:
15165667
[PubMed - indexed for MEDLINE]
11.

Impaired phenylalanine-tyrosine conversion in patients with iron-deficiency anemia studied by a L-(2H5)phenylalanine-loading test.

Lehmann WD, Heinrich HC.

Am J Clin Nutr. 1986 Oct;44(4):468-74.

PMID:
3766433
[PubMed - indexed for MEDLINE]
Free Article
12.

[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].

Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):210-2. Chinese.

PMID:
17407085
[PubMed - indexed for MEDLINE]
13.

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

Fiori L, Fiege B, Riva E, Giovannini M.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S67-74. Epub 2005 Sep 28.

PMID:
16198137
[PubMed - indexed for MEDLINE]
14.

Frequency of GCH1 deletions in Dopa-responsive dystonia.

Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, Henke L, Müller U.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):183-6. Epub 2007 Sep 26.

PMID:
17898029
[PubMed - indexed for MEDLINE]
15.

Dopa-responsive dystonia and Tourette syndrome in a large Danish family.

Romstad A, Dupont E, Krag-Olsen B, Østergaard K, Guldberg P, Güttler F.

Arch Neurol. 2003 Apr;60(4):618-22.

PMID:
12707079
[PubMed - indexed for MEDLINE]
16.

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE.

J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):801-4.

PMID:
12023430
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Detection of heterozygous carriers for phenylketonuria by a L-[2H5]phenylalanine stable isotope loading test.

Lehmann WD, Theobald N, Heinrich HC, Clemens P, Grüttner R.

Clin Chim Acta. 1984 Mar 27;138(1):59-71.

PMID:
6713688
[PubMed - indexed for MEDLINE]
18.

Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.

Souza CP, Valadares ER, Trindade AL, Rocha VL, Oliveira LR, Godard AL.

Genet Mol Res. 2008 Aug 5;7(3):687-94.

PMID:
18752196
[PubMed - indexed for MEDLINE]
Free Article
19.

Evaluation of the PaT Stat Kinetic UV Test set for the determination of phenylalanine and tyrosine in serum or plasma.

McKnight RP, Willis JE, Shen RS, Abell CW.

Clin Biochem. 1983 Jun;16(3):157-62.

PMID:
6851077
[PubMed - indexed for MEDLINE]
20.

[Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].

Yang L, Zhang ZX, Ye J, Zhou ZS, Shen M, Han LS, Qiu W, Yu WM, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):310-3. Chinese.

PMID:
17557244
[PubMed - indexed for MEDLINE]

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