Similar articles for PMID: 26123188

Year	Number of Results
1980	1
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2000	1
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2019	5
2020	4
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2024	0

1

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.

Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V. Carducci C, et al. Mol Genet Metab. 2015 Aug;115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25. Mol Genet Metab. 2015. PMID: 26123188

2

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency.

Hyodo Y, Akiyama T, Fukuyama T, Mimaki M, Watanabe K, Kumagai T, Kobayashi K. Hyodo Y, et al. Clin Chim Acta. 2022 Sep 1;534:167-172. doi: 10.1016/j.cca.2022.07.016. Epub 2022 Aug 1. Clin Chim Acta. 2022. PMID: 35926683 Free article.

3

Very early pattern of movement disorders in sepiapterin reductase deficiency.

Leuzzi V, Carducci C, Tolve M, Giannini MT, Angeloni A, Carducci C. Leuzzi V, et al. Neurology. 2013 Dec 10;81(24):2141-2. doi: 10.1212/01.wnl.0000437299.51312.5f. Epub 2013 Nov 8. Neurology. 2013. PMID: 24212389 No abstract available.

4

Sepiapterin reductase deficiency: Report of 5 new cases.

AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B. AlSubhi S, et al. Eur J Paediatr Neurol. 2017 May;21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. Eur J Paediatr Neurol. 2017. PMID: 28189489

5

Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency.

Mainka T, Hoffmann J, Kühn AA, Biskup S, Ganos C. Mainka T, et al. Neurology. 2020 Jul 21;95(3):e332-e334. doi: 10.1212/WNL.0000000000009901. Epub 2020 Jun 26. Neurology. 2020. PMID: 32591469 No abstract available.

6

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT. Abeling NG, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme.2006.03.010. Epub 2006 May 2. Mol Genet Metab. 2006. PMID: 16650784

7

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A. Blau N, et al. Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Turk J Pediatr. 1996. PMID: 8819618 Review.

8

Monoamine neurotransmitter deficiencies.

Pearl PL. Pearl PL. Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. Handb Clin Neurol. 2013. PMID: 23622404 Review.

9

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J. Kusmierska K, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S5-10. doi: 10.1007/s10545-008-1009-4. Epub 2009 Jan 7. J Inherit Metab Dis. 2009. PMID: 19130291

10

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

Opladen T, Hoffmann GF, Kühn AA, Blau N. Opladen T, et al. Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12. Mol Genet Metab. 2013. PMID: 23375473

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