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Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

Journal of clinical medicine

Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N.
PMID: 31344955
J Clin Med. 2019 Jul 24;8(8). doi: 10.3390/jcm8081096.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations in the nuclear

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Bax BE, Levene M, Bain MD, et al. Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med. 2019;8(8)doi: 10.3390/jcm8081096.
Bax, B. E., Levene, M., Bain, M. D., Fairbanks, L. D., Filosto, M., Kalkan Uçar, S., Klopstock, T., Kornblum, C., Mandel, H., Rahman, S., Roubertie, A., Scarpelli, M., Sedgwick, P. M., Baru, M., Sellos-Moura, M., Price, J., Horn, P., & Nirmalananthan, N. (2019). Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. Journal of clinical medicine, 8(8), . https://doi.org/10.3390/jcm8081096
Bax, Bridget E, et al. "Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial." Journal of clinical medicine vol. 8,8 (2019). doi: https://doi.org/10.3390/jcm8081096
Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N. Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med. 2019 Jul 24;8(8). doi: 10.3390/jcm8081096. PMID: 31344955; PMCID: PMC6722784.
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Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

Journal of clinical medicine

Kipper K, Hecht M, Antunes NJ, Fairbanks LD, Levene M, Kalkan Uçar S, Schaefer A, Blakely EL, Bax BE.
PMID: 32183169
J Clin Med. 2020 Mar 13;9(3). doi: 10.3390/jcm9030788.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in

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Kipper K, Hecht M, Antunes NJ, et al. Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med. 2020;9(3)doi: 10.3390/jcm9030788.
Kipper, K., Hecht, M., Antunes, N. J., Fairbanks, L. D., Levene, M., Kalkan Uçar, S., Schaefer, A., Blakely, E. L., & Bax, B. E. (2020). Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. Journal of clinical medicine, 9(3), . https://doi.org/10.3390/jcm9030788
Kipper, Karin, et al. "Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy." Journal of clinical medicine vol. 9,3 (2020). doi: https://doi.org/10.3390/jcm9030788
Kipper K, Hecht M, Antunes NJ, Fairbanks LD, Levene M, Kalkan Uçar S, Schaefer A, Blakely EL, Bax BE. Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med. 2020 Mar 13;9(3). doi: 10.3390/jcm9030788. PMID: 32183169; PMCID: PMC7141342.
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Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Pediatric health, medicine and therapeutics

Canda E, Kalkan Uçar S, Çoker M.
PMID: 32440248
Pediatric Health Med Ther. 2020 May 04;11:127-133. doi: 10.2147/PHMT.S198656. eCollection 2020.

Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia, and skin rash....

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Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health Med Ther. 2020;11:127-133doi: 10.2147/PHMT.S198656.
Canda, E., Kalkan Uçar, S., & Çoker, M. (2020). Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric health, medicine and therapeutics, 11127-133. https://doi.org/10.2147/PHMT.S198656
Canda, Ebru, et al. "Biotinidase Deficiency: Prevalence, Impact And Management Strategies." Pediatric health, medicine and therapeutics vol. 11 (2020): 127-133. doi: https://doi.org/10.2147/PHMT.S198656
Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric Health Med Ther. 2020 May 04;11:127-133. doi: 10.2147/PHMT.S198656. eCollection 2020. PMID: 32440248; PMCID: PMC7211084.
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Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

JIMD reports

Bozaci AE, Er E, Yazici H, Canda E, Kalkan Uçar S, Güvenc Saka M, Eraslan C, Onay H, Habif S, Thöny B, Coker M.
PMID: 33977029
JIMD Rep. 2021 Feb 01;59(1):42-51. doi: 10.1002/jmd2.12199. eCollection 2021 May.

OBJECTIVES: The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow-up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.METHODS: We analyzed clinical, biochemical, and molecular data of nine patients with...

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Bozaci AE, Er E, Yazici H, et al. Tetrahydrobiopterin deficiencies: Lesson from clinical experience. JIMD Rep. 2021;59(1):42-51doi: 10.1002/jmd2.12199.
Bozaci, A. E., Er, E., Yazici, H., Canda, E., Kalkan Uçar, S., Güvenc Saka, M., Eraslan, C., Onay, H., Habif, S., Thöny, B., & Coker, M. (2021). Tetrahydrobiopterin deficiencies: Lesson from clinical experience. JIMD reports, 59(1), 42-51. https://doi.org/10.1002/jmd2.12199
Bozaci, Ayse Ergul, et al. "Tetrahydrobiopterin deficiencies: Lesson from clinical experience." JIMD reports vol. 59,1 (2021): 42-51. doi: https://doi.org/10.1002/jmd2.12199
Bozaci AE, Er E, Yazici H, Canda E, Kalkan Uçar S, Güvenc Saka M, Eraslan C, Onay H, Habif S, Thöny B, Coker M. Tetrahydrobiopterin deficiencies: Lesson from clinical experience. JIMD Rep. 2021 Feb 01;59(1):42-51. doi: 10.1002/jmd2.12199. eCollection 2021 May. PMID: 33977029; PMCID: PMC8100404.
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Showing 1 to 4 of 4 entries