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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

BMC pediatrics

Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D.
PMID: 34915869
BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3.

BACKGROUND: Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be cobalamin responsive. The type...

Cite
Brennerová K, Škopková M, Ostrožlíková M, et al. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC Pediatr. 2021;21(1):578doi: 10.1186/s12887-021-03067-3.
Brennerová, K., Škopková, M., Ostrožlíková, M., Šaligová, J., Staník, J., Bzdúch, V., & Gašperíková, D. (2021). Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC pediatrics, 21(1), 578. https://doi.org/10.1186/s12887-021-03067-3
Brennerová, Katarína, et al. "Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report." BMC pediatrics vol. 21,1 (2021): 578. doi: https://doi.org/10.1186/s12887-021-03067-3
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3. PMID: 34915869.
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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

American journal of medical genetics. Part A

Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P.
PMID: 34467644
Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 01.

Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG globally. Due to...

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Ziburová J, Nemčovič M, Šesták S, et al. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Am J Med Genet A. 2021;185(11):3494-3501doi: 10.1002/ajmg.a.62474.
Ziburová, J., Nemčovič, M., Šesták, S., Bellová, J., Pakanová, Z., Siváková, B., Šalingová, A., Šebová, C., Ostrožlíková, M., Lekka, D. E., Brucknerová, J., Brucknerová, I., Skokňová, M., Mc Cullough, A., Hrčková, G., Hlavatá, A., Bzdúch, V., Mucha, J., & Baráth, P. (2021). A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. American journal of medical genetics. Part A, 185(11), 3494-3501. https://doi.org/10.1002/ajmg.a.62474
Ziburová, Jana, et al. "A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum." American journal of medical genetics. Part A vol. 185,11 (2021): 3494-3501. doi: https://doi.org/10.1002/ajmg.a.62474
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 01. PMID: 34467644.
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Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Journal of inherited metabolic disease

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.
PMID: 25778942
J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9.

No abstract available.

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Magner M, Dvorakova V, Tesarova M, et al. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015;38(3):583-4doi: 10.1007/s10545-015-9833-9.
Magner, M., Dvorakova, V., Tesarova, M., Mazurova, S., Hansikova, H., Zahorec, M., Brennerova, K., Bzduch, V., Spiegel, R., Horovitz, Y., Mandel, H., Eminoğlu, F. T., Mayr, J. A., Koch, J., Martinelli, D., Bertini, E., Konstantopoulou, V., Smet, J., Rahman, S., Broomfield, A., Stojanović, V., Dionisi-Vici, C., van Coster, R., Morava, E., Sperl, W., Zeman, J., & Honzik, T. (2015). Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. Journal of inherited metabolic disease, 38(3), 583-4. https://doi.org/10.1007/s10545-015-9833-9
Magner, Martin, et al. "Erratum to: TMEM70 deficiency: long-term outcome of 48 patients." Journal of inherited metabolic disease vol. 38,3 (2015): 583-4. doi: https://doi.org/10.1007/s10545-015-9833-9
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. PMID: 25778942.
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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.

Molecular genetics and metabolism reports

Marquardt T, Bzduch V, Hogrebe M, Rust S, Reunert J, Grüneberg M, Park J, Callewaert N, Lachmann R, Wada Y, Engel T.
PMID: 32884905
Mol Genet Metab Rep. 2020 Aug 21;25:100636. doi: 10.1016/j.ymgmr.2020.100636. eCollection 2020 Dec.

Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the...

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Marquardt T, Bzduch V, Hogrebe M, et al. SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. Mol Genet Metab Rep. 2020;25:100636doi: 10.1016/j.ymgmr.2020.100636.
Marquardt, T., Bzduch, V., Hogrebe, M., Rust, S., Reunert, J., Grüneberg, M., Park, J., Callewaert, N., Lachmann, R., Wada, Y., & Engel, T. (2020). SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. Molecular genetics and metabolism reports, 25100636. https://doi.org/10.1016/j.ymgmr.2020.100636
Marquardt, Thorsten, et al. "SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation." Molecular genetics and metabolism reports vol. 25 (2020): 100636. doi: https://doi.org/10.1016/j.ymgmr.2020.100636
Marquardt T, Bzduch V, Hogrebe M, Rust S, Reunert J, Grüneberg M, Park J, Callewaert N, Lachmann R, Wada Y, Engel T. SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. Mol Genet Metab Rep. 2020 Aug 21;25:100636. doi: 10.1016/j.ymgmr.2020.100636. eCollection 2020 Dec. PMID: 32884905; PMCID: PMC7451446.
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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.

BMC pediatrics

Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D.
PMID: 34915869
BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3.

BACKGROUND: Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be cobalamin responsive. The type...

Cite
Brennerová K, Škopková M, Ostrožlíková M, et al. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC Pediatr. 2021;21(1):578doi: 10.1186/s12887-021-03067-3.
Brennerová, K., Škopková, M., Ostrožlíková, M., Šaligová, J., Staník, J., Bzdúch, V., & Gašperíková, D. (2021). Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC pediatrics, 21(1), 578. https://doi.org/10.1186/s12887-021-03067-3
Brennerová, Katarína, et al. "Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report." BMC pediatrics vol. 21,1 (2021): 578. doi: https://doi.org/10.1186/s12887-021-03067-3
Brennerová K, Škopková M, Ostrožlíková M, Šaligová J, Staník J, Bzdúch V, Gašperíková D. Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC Pediatr. 2021 Dec 16;21(1):578. doi: 10.1186/s12887-021-03067-3. PMID: 34915869; PMCID: PMC8675494.
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Showing 1 to 5 of 5 entries