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Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.

Epilepsy & behavior case reports

Furujo M, Kinoshita M, Ichiba Y, Romstad A, Shintaku H, Kubo T.
PMID: 25667865
Epilepsy Behav Case Rep. 2014 Mar 13;2:37-9. doi: 10.1016/j.ebcr.2014.01.007. eCollection 2014.

We assessed the clinical characteristics and efficacy of neurotransmitters and levetiracetam in a patient with hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency who developed epileptic seizures. A boy with DHPR deficiency, who had been successfully treated with tetrahydrobiopterin (BH4),...

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Furujo M, Kinoshita M, Ichiba Y, et al. Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy Behav Case Rep. 2014;2:37-9doi: 10.1016/j.ebcr.2014.01.007.
Furujo, M., Kinoshita, M., Ichiba, Y., Romstad, A., Shintaku, H., & Kubo, T. (2014). Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy & behavior case reports, 237-9. https://doi.org/10.1016/j.ebcr.2014.01.007
Furujo, Mahoko, et al. "Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency." Epilepsy & behavior case reports vol. 2 (2014): 37-9. doi: https://doi.org/10.1016/j.ebcr.2014.01.007
Furujo M, Kinoshita M, Ichiba Y, Romstad A, Shintaku H, Kubo T. Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. Epilepsy Behav Case Rep. 2014 Mar 13;2:37-9. doi: 10.1016/j.ebcr.2014.01.007. eCollection 2014. PMID: 25667865; PMCID: PMC4308063.
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The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy.

Neuroscience letters

Altamura AC, Bonati M, Brunello N, Giordano PL, Algeri S.
PMID: 19605093
Neurosci Lett. 1978 Jan;7(1):83-7. doi: 10.1016/0304-3940(78)90117-9.

The activities of tyrosine hydroxylase (TH), dihydropteridine reductase (DHPR), aromatic aminoacid decarboxylase (AAD) and glutamic acid decarboxylase (GAD), enzymes involved in the synthesis of neurotransmitters possibly implicated in epilepsy, were measured in some brain areas of rats with cobalt-induced...

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Altamura AC, Bonati M, Brunello N, et al. The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy. Neurosci Lett. 1978;7(1):83-7doi: 10.1016/0304-3940(78)90117-9.
Altamura, A. C., Bonati, M., Brunello, N., Giordano, P. L., & Algeri, S. (1978). The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy. Neuroscience letters, 7(1), 83-7. https://doi.org/10.1016/0304-3940(78)90117-9
Altamura, A C, et al. "The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy." Neuroscience letters vol. 7,1 (1978): 83-7. doi: https://doi.org/10.1016/0304-3940(78)90117-9
Altamura AC, Bonati M, Brunello N, Giordano PL, Algeri S. The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy. Neurosci Lett. 1978 Jan;7(1):83-7. doi: 10.1016/0304-3940(78)90117-9. PMID: 19605093.
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Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.

JIMD reports

Coughlin CR, Hyland K, Randall R, Ficicioglu C.
PMID: 23430801
JIMD Rep. 2013;10:53-6. doi: 10.1007/8904_2012_202. Epub 2012 Dec 29.

Dihydropteridine reductase (DHPR) deficiency is a genetic disorder of tetrahydrobiopterin (BH4) regeneration and may present with hyperphenylalaninemia, microcephaly, hypotonia, mental retardation, and convulsions. BH4 is an essential cofactor for the hydroxylation of aromatic amino acids and a deficiency of...

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Coughlin CR, Hyland K, Randall R, et al. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2012;10:53-6doi: 10.1007/8904_2012_202.
Coughlin, C. R., Hyland, K., Randall, R., & Ficicioglu, C. (2013). Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD reports, 1053-6. https://doi.org/10.1007/8904_2012_202
Coughlin, Curtis R, et al. "Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report." JIMD reports vol. 10 (2013): 53-6. doi: https://doi.org/10.1007/8904_2012_202
Coughlin CR, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2013;10:53-6. doi: 10.1007/8904_2012_202. Epub 2012 Dec 29. PMID: 23430801; PMCID: PMC3755580.
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LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.

JIMD reports

Arning E, Bottiglieri T.
PMID: 25213568
JIMD Rep. 2016;29:1-9. doi: 10.1007/8904_2014_336. Epub 2014 Sep 12.

The analysis of (6R)-5,6,7,8-tetrahydrobiopterin (BH4) and neopterin in cerebrospinal fluid (CSF) is often used to identify defects in the pterin biosynthetic pathway affecting monoamine metabolism that can lead to pediatric neurotransmitter diseases. Low levels of BH4 and neopterin alone...

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Arning E, Bottiglieri T. LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway. JIMD Rep. 2014;29:1-9doi: 10.1007/8904_2014_336.
Arning, E., & Bottiglieri, T. (2016). LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway. JIMD reports, 291-9. https://doi.org/10.1007/8904_2014_336
Arning, Erland, and Bottiglieri, Teodoro. "LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway." JIMD reports vol. 29 (2016): 1-9. doi: https://doi.org/10.1007/8904_2014_336
Arning E, Bottiglieri T. LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway. JIMD Rep. 2016;29:1-9. doi: 10.1007/8904_2014_336. Epub 2014 Sep 12. PMID: 25213568; PMCID: PMC5059177.
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Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.

Metabolic brain disease

Mastrangelo M.
PMID: 33095372
Metab Brain Dis. 2021 Jan;36(1):29-43. doi: 10.1007/s11011-020-00635-x. Epub 2020 Oct 23.

Inborn errors of neurotransmitter metabolism are ultrarare disorders affecting neurotransmitter biosynthesis, breakdown or transport or their essential cofactors. Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is...

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Mastrangelo M. Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management. Metab Brain Dis. 2020;36(1):29-43doi: 10.1007/s11011-020-00635-x.
Mastrangelo, M. (2021). Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management. Metabolic brain disease, 36(1), 29-43. https://doi.org/10.1007/s11011-020-00635-x
Mastrangelo, Mario. "Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management." Metabolic brain disease vol. 36,1 (2021): 29-43. doi: https://doi.org/10.1007/s11011-020-00635-x
Mastrangelo M. Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management. Metab Brain Dis. 2021 Jan;36(1):29-43. doi: 10.1007/s11011-020-00635-x. Epub 2020 Oct 23. PMID: 33095372.
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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

Journal of inherited metabolic disease

Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T, Harting I.
PMID: 33443316
J Inherit Metab Dis. 2021 Jul;44(4):1070-1082. doi: 10.1002/jimd.12360. Epub 2021 Jan 28.

Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and...

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Kuseyri Hübschmann O, Mohr A, Friedman J, et al. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. J Inherit Metab Dis. 2021;44(4):1070-1082doi: 10.1002/jimd.12360.
Kuseyri Hübschmann, O., Mohr, A., Friedman, J., Manti, F., Horvath, G., Cortès-Saladelafont, E., Mercimek-Andrews, S., Yildiz, Y., Pons, R., Kulhánek, J., Oppebøen, M., Koht, J. A., Podzamczer-Valls, I., Domingo-Jimenez, R., Ibáñez, S., Alcoverro-Fortuny, O., Gómez-Alemany, T., de Castro, P., Alfonsi, C., Zafeiriou, D. I., López-Laso, E., Guder, P., Santer, R., Honzík, T., Hoffmann, G. F., Garbade, S. F., Sivri, H. S., Leuzzi, V., Jeltsch, K., García-Cazorla, A., Opladen, T., & Harting, I. (2021). Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. Journal of inherited metabolic disease, 44(4), 1070-1082. https://doi.org/10.1002/jimd.12360
Kuseyri Hübschmann, Oya, et al. "Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients." Journal of inherited metabolic disease vol. 44,4 (2021): 1070-1082. doi: https://doi.org/10.1002/jimd.12360
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T, Harting I. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. J Inherit Metab Dis. 2021 Jul;44(4):1070-1082. doi: 10.1002/jimd.12360. Epub 2021 Jan 28. PMID: 33443316.
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The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.

Journal of pediatric endocrinology & metabolism : JPEM

Khani S, Barzegari M, Esmaeilizadeh Z, Farsian P, Alaei M, Salehpour S, Setoodeh A, Rohani F, Samavat A, Zekri A, Mirzazadeh R, Sadeghi S, Khatami S.
PMID: 34214291
J Pediatr Endocrinol Metab. 2021 Jul 02;34(9):1157-1167. doi: 10.1515/jpem-2021-0155. Print 2021 Sep 27.

OBJECTIVES: This study aimed to evaluate the biochemical factors, genetic mutations, outcome of treatment, and clinical follow-up data of Iranian patients with tetrahydrobiopterin (BH4) deficiency from April/2016 to March/2020.METHODS: Forty-seven BH4 deficiency patients were included in the study and...

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Khani S, Barzegari M, Esmaeilizadeh Z, et al. The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency. J Pediatr Endocrinol Metab. 2021;34(9):1157-1167doi: 10.1515/jpem-2021-0155.
Khani, S., Barzegari, M., Esmaeilizadeh, Z., Farsian, P., Alaei, M., Salehpour, S., Setoodeh, A., Rohani, F., Samavat, A., Zekri, A., Mirzazadeh, R., Sadeghi, S., & Khatami, S. (2021). The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency. Journal of pediatric endocrinology & metabolism : JPEM, 34(9), 1157-1167. https://doi.org/10.1515/jpem-2021-0155
Khani, Soghra, et al. "The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency." Journal of pediatric endocrinology & metabolism : JPEM vol. 34,9 (2021): 1157-1167. doi: https://doi.org/10.1515/jpem-2021-0155
Khani S, Barzegari M, Esmaeilizadeh Z, Farsian P, Alaei M, Salehpour S, Setoodeh A, Rohani F, Samavat A, Zekri A, Mirzazadeh R, Sadeghi S, Khatami S. The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency. J Pediatr Endocrinol Metab. 2021 Jul 02;34(9):1157-1167. doi: 10.1515/jpem-2021-0155. Print 2021 Sep 27. PMID: 34214291.
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Protective effect of Phellinus linteus polysaccharide extracts against thioacetamide-induced liver fibrosis in rats: a proteomics analysis.

Chinese medicine

Wang H, Wu G, Park HJ, Jiang PP, Sit WH, van Griensven LJ, Wan JM.
PMID: 23075396
Chin Med. 2012 Oct 18;7(1):23. doi: 10.1186/1749-8546-7-23.

BACKGROUND: The hepatoprotective potential of Phellinus linteus polysaccharide (PLP) extracts has been described. However, the molecular mechanism of PLP for the inhibition of liver fibrosis is unclear. This study aims to investigate the molecular protein signatures involved in the...

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Wang H, Wu G, Park HJ, et al. Protective effect of Phellinus linteus polysaccharide extracts against thioacetamide-induced liver fibrosis in rats: a proteomics analysis. Chin Med. 2012;7(1):23doi: 10.1186/1749-8546-7-23.
Wang, H., Wu, G., Park, H. J., Jiang, P. P., Sit, W. H., van Griensven, L. J., & Wan, J. M. (2012). Protective effect of Phellinus linteus polysaccharide extracts against thioacetamide-induced liver fibrosis in rats: a proteomics analysis. Chinese medicine, 7(1), 23. https://doi.org/10.1186/1749-8546-7-23
Wang, Hualin, et al. "Protective effect of Phellinus linteus polysaccharide extracts against thioacetamide-induced liver fibrosis in rats: a proteomics analysis." Chinese medicine vol. 7,1 (2012): 23. doi: https://doi.org/10.1186/1749-8546-7-23
Wang H, Wu G, Park HJ, Jiang PP, Sit WH, van Griensven LJ, Wan JM. Protective effect of Phellinus linteus polysaccharide extracts against thioacetamide-induced liver fibrosis in rats: a proteomics analysis. Chin Med. 2012 Oct 18;7(1):23. doi: 10.1186/1749-8546-7-23. PMID: 23075396; PMCID: PMC3536605.
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High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?.

JIMD reports

Vitturi N, Lenzini L, Luisi C, Carecchio M, Gugelmo G, Francini-Pesenti F, Avogaro A.
PMID: 34485017
JIMD Rep. 2021 Jun 29;61(1):48-51. doi: 10.1002/jmd2.12236. eCollection 2021 Sep.

We report the case of a 22-year-old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L-Dopa supplementation the patient continued to show high prolactin levels, with a discrepancy between the...

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Vitturi N, Lenzini L, Luisi C, et al. High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?. JIMD Rep. 2021;61(1):48-51doi: 10.1002/jmd2.12236.
Vitturi, N., Lenzini, L., Luisi, C., Carecchio, M., Gugelmo, G., Francini-Pesenti, F., & Avogaro, A. (2021). High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?. JIMD reports, 61(1), 48-51. https://doi.org/10.1002/jmd2.12236
Vitturi, Nicola, et al. "High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?." JIMD reports vol. 61,1 (2021): 48-51. doi: https://doi.org/10.1002/jmd2.12236
Vitturi N, Lenzini L, Luisi C, Carecchio M, Gugelmo G, Francini-Pesenti F, Avogaro A. High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?. JIMD Rep. 2021 Jun 29;61(1):48-51. doi: 10.1002/jmd2.12236. eCollection 2021 Sep. PMID: 34485017; PMCID: PMC8411106.
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Tryptophan hydroxylase system in brain tissue slices assayed by high-performance liquid chromatography.

Neurochemistry international

Nagatsu T, Sawada M, Yamaguchi T.
PMID: 20487988
Neurochem Int. 1983;5(5):603-9. doi: 10.1016/0197-0186(83)90053-0.

A new method was developed to study the unsupplemented tryptophan hydroxylase system in brain tissue slices from the raphe nuclei of the rat by high-performance liquid chromatography (HPLC) with fluorescence detection. Tryptophan hydroxylase activity was measured by determining 5-hydroxytryptophan...

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Nagatsu T, Sawada M, Yamaguchi T. Tryptophan hydroxylase system in brain tissue slices assayed by high-performance liquid chromatography. Neurochem Int. 1983;5(5):603-9doi: 10.1016/0197-0186(83)90053-0.
Nagatsu, T., Sawada, M., & Yamaguchi, T. (1983). Tryptophan hydroxylase system in brain tissue slices assayed by high-performance liquid chromatography. Neurochemistry international, 5(5), 603-9. https://doi.org/10.1016/0197-0186(83)90053-0
Nagatsu, T, et al. "Tryptophan hydroxylase system in brain tissue slices assayed by high-performance liquid chromatography." Neurochemistry international vol. 5,5 (1983): 603-9. doi: https://doi.org/10.1016/0197-0186(83)90053-0
Nagatsu T, Sawada M, Yamaguchi T. Tryptophan hydroxylase system in brain tissue slices assayed by high-performance liquid chromatography. Neurochem Int. 1983;5(5):603-9. doi: 10.1016/0197-0186(83)90053-0. PMID: 20487988.
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The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran.

Indian journal of human genetics

Moradi K, Alibakhshi R, Khatami S.
PMID: 24497712
Indian J Hum Genet. 2013 Oct;19(4):454-8. doi: 10.4103/0971-6866.124375.

BACKGROUND: Defects either in phenylalanine hydroxylase (PheOH) or in the production and recycling of its cofactor (tetrahydrobiopterin [BH4]) are the causes of primary hyperphenylalaninemia (HPA). The aim of our study was to investigate the current status of different variants...

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Moradi K, Alibakhshi R, Khatami S. The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. Indian J Hum Genet. 2013;19(4):454-8doi: 10.4103/0971-6866.124375.
Moradi, K., Alibakhshi, R., & Khatami, S. (2013). The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. Indian journal of human genetics, 19(4), 454-8. https://doi.org/10.4103/0971-6866.124375
Moradi, Keyvan, et al. "The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran." Indian journal of human genetics vol. 19,4 (2013): 454-8. doi: https://doi.org/10.4103/0971-6866.124375
Moradi K, Alibakhshi R, Khatami S. The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. Indian J Hum Genet. 2013 Oct;19(4):454-8. doi: 10.4103/0971-6866.124375. PMID: 24497712; PMCID: PMC3897142.
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The complexity of newborn screening follow-up in phenylketonuria.

JIMD reports

Hecht LE, Wessel AE, Levy HL, Berry GT.
PMID: 25155776
JIMD Rep. 2014;17:37-9. doi: 10.1007/8904_2014_329. Epub 2014 Aug 26.

In the United States, and most developed nations, the newborn screening (NBS) panel covers many primary disorders of metabolism, including phenylketonuria (PKU). When an elevated phenylalanine level is identified, the infant is evaluated for PKU and should also be...

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Hecht LE, Wessel AE, Levy HL, et al. The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014;17:37-9doi: 10.1007/8904_2014_329.
Hecht, L. E., Wessel, A. E., Levy, H. L., & Berry, G. T. (2014). The complexity of newborn screening follow-up in phenylketonuria. JIMD reports, 1737-9. https://doi.org/10.1007/8904_2014_329
Hecht, Leah E, et al. "The complexity of newborn screening follow-up in phenylketonuria." JIMD reports vol. 17 (2014): 37-9. doi: https://doi.org/10.1007/8904_2014_329
Hecht LE, Wessel AE, Levy HL, Berry GT. The complexity of newborn screening follow-up in phenylketonuria. JIMD Rep. 2014;17:37-9. doi: 10.1007/8904_2014_329. Epub 2014 Aug 26. PMID: 25155776; PMCID: PMC4241208.
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