Kalıtsal Metabolik Hastalıkların Beyin Gelişimi Üzerindeki Etkileri

Aboitiz, F., & Zamorano, F. (2013). Neural progenitors, patterning and ecology in neocortical origins. Front Neuroanat, 7, 38. https://doi.org/10.3389/fnana.2013.00038

Aitkenhead, L., Krishna, G., Ellerton, C., Moinuddin, M., Matcham, J., Shiel, L., . . . Murphy, E. (2021). Long-term cognitive and psychosocial outcomes in adults with phenylketonuria. J Inherit Metab Dis, 44(6), 1353-1368. https://doi.org/10.1002/jimd.12413

Aubourg, P., & Wanders, R. (2013). Peroxisomal disorders. Handb Clin Neurol, 113, 1593-1609. https://doi.org/10.1016/B978-0-444-59565-2.00028-9

Barateiro, A., Brites, D., & Fernandes, A. (2016). Oligodendrocyte Development and Myelination in Neurodevelopment: Molecular Mechanisms in Health and Disease. Curr Pharm Des, 22(6), 656-679. https://doi.org/10.2174/1381612822666151204000636

Bauernfeind, A. L., & Babbitt, C. C. (2014). The appropriation of glucose through primate neurodevelopment. J Hum Evol, 77, 132-140. https://doi.org/10.1016/j.jhevol.2014.05.016

Bayat, A., Moller, L. B., & Lund, A. M. (2015). [Diagnostics and treatment of phenylketonuria]. Ugeskr Laeger, 177(8). https://www.ncbi.nlm.nih.gov/pubmed/25697170 (Diagnostik og behandling af fenylketonuri.)

Beneto, N., Vilageliu, L., Grinberg, D., & Canals, I. (2020). Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. Int J Mol Sci, 21(21). https://doi.org/10.3390/ijms21217819

Bertipaglia, C., Goncalves, J. C., & Vallee, R. B. (2018). Nuclear migration in mammalian brain development. Semin Cell Dev Biol, 82, 57-66. https://doi.org/10.1016/j.semcdb.2017.11.033

Bouchereau, J., Leduc-Leballeur, J., Pichard, S., Imbard, A., Benoist, J. F., Abi Warde, M. T., . . . Schiff, M. (2017). Neurocognitive profiles in MSUD school-age patients. J Inherit Metab Dis, 40(3), 377-383. https://doi.org/10.1007/s10545-017-0033-7

Bradbury, A. M., Bongarzone, E. R., & Sands, M. S. (2021). Krabbe disease: New hope for an old disease. Neurosci Lett, 752, 135841. https://doi.org/10.1016/j.neulet.2021.135841

Casey, L. (2013). Caring for children with phenylketonuria. Can Fam Physician, 59(8), 837-840. https://www.ncbi.nlm.nih.gov/pubmed/23946023

Cortes-Saladelafont, E., Lipstein, N., & Garcia-Cazorla, A. (2018). Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle. J Inherit Metab Dis, 41(6), 1131-1145. https://doi.org/10.1007/s10545-018-0230-z

Dietrich, K. N., Eskenazi, B., Schantz, S., Yolton, K., Rauh, V. A., Johnson, C. B., . . . Berman, R. F. (2005). Principles and practices of neurodevelopmental assessment in children: lessons learned from the Centers for Children's Environmental Health and Disease Prevention Research. Environ Health Perspect, 113(10), 1437-1446. https://doi.org/10.1289/ehp.7672

Elumalai, V., & Pasrija, D. (2022). Zellweger Syndrome. In StatPearls. https://www.ncbi.nlm.nih.gov/pubmed/32809511

Farhy-Tselnicker, I., & Allen, N. J. (2018). Astrocytes, neurons, synapses: a tripartite view on cortical circuit development. Neural Dev, 13(1), 7. https://doi.org/10.1186/s13064-018-0104-y

Fumagalli, M., Lecca, D., Abbracchio, M. P., & Ceruti, S. (2017). Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases. Front Pharmacol, 8, 941. https://doi.org/10.3389/fphar.2017.00941

Hu, W. F., Chahrour, M. H., & Walsh, C. A. (2014). The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet, 15, 195-213. https://doi.org/10.1146/annurev-genom-090413-025600

Koc Yekeduz, M., Sen Akova, B., Kose, E., Dogulu, N., Oncul, U., Okulu, E., . . . Eminoglu, F. T. (2022). Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study. Clin Neurol Neurosurg, 222, 107474. https://doi.org/10.1016/j.clineuro.2022.107474

Marsh, D., & Dragich, J. M. (2019). Autophagy in mammalian neurodevelopment and implications for childhood neurological disorders. Neurosci Lett, 697, 29-33. https://doi.org/10.1016/j.neulet.2018.04.017

Nicoli, E. R., Annunziata, I., d'Azzo, A., Platt, F. M., Tifft, C. J., & Stepien, K. M. (2021). GM1 Gangliosidosis-A Mini-Review. Front Genet, 12, 734878. https://doi.org/10.3389/fgene.2021.734878

Orsini, J. J., Escolar, M. L., Wasserstein, M. P., & Caggana, M. (1993). Krabbe Disease. In M. P. Adam, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, & A. Amemiya (Eds.), GeneReviews((R)). https://www.ncbi.nlm.nih.gov/pubmed/20301416

Paprocka, J., & Jamroz, E. (2012). Hyperammonemia in children: on the crossroad of different disorders. Neurologist, 18(5), 261-265. https://doi.org/10.1097/NRL.0b013e318266f58a

Porta, F., Pagliardini, S., Pagliardini, V., Ponzone, A., & Spada, M. (2015). Newborn screening for galactosemia: a 30-year single center experience. World J Pediatr, 11(2), 160-164. https://doi.org/10.1007/s12519-015-0017-3

Rahman, M., Sharma, M., Aggarwal, P., Singla, S., & Jain, N. (2022). Homocystinuria and ocular complications - A review. Indian J Ophthalmol, 70(7), 2272-2278. https://doi.org/10.4103/ijo.IJO_309_22

Raina, R., Bedoyan, J. K., Lichter-Konecki, U., Jouvet, P., Picca, S., Mew, N. A., . . . Warady, B. A. (2020). Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. Nat Rev Nephrol, 16(8), 471-482. https://doi.org/10.1038/s41581-020-0267-8

Reddy, N., Calloni, S. F., Vernon, H. J., Boltshauser, E., Huisman, T., & Soares, B. P. (2018). Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Radiographics, 38(3), 912-931. https://doi.org/10.1148/rg.2018170042

Rice, D., & Barone, S., Jr. (2000). Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environ Health Perspect, 108 Suppl 3(Suppl 3), 511-533. https://doi.org/10.1289/ehp.00108s3511

Rubio-Agusti, I., Carecchio, M., Bhatia, K. P., Kojovic, M., Parees, I., Chandrashekar, H. S., . . . Murphy, E. (2013). Movement disorders in adult patients with classical galactosemia. Mov Disord, 28(6), 804-810. https://doi.org/10.1002/mds.25348

Saudubray, J. M., & Garcia-Cazorla, A. (2018). An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci, 20(4), 301-325. https://doi.org/10.31887/DCNS.2018.20.4/jmsaudubray

Sitarska, D., Tylki-Szymanska, A., & Lugowska, A. (2021). Treatment trials in Niemann-Pick type C disease. Metab Brain Dis, 36(8), 2215-2221. https://doi.org/10.1007/s11011-021-00842-0

Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., . . . Berger, M. G. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci, 18(2). https://doi.org/10.3390/ijms18020441

Unsal, Y., Yurdakok, M., Yigit, S., Celik, H. T., Dursun, A., Sivri, H. S., . . . Coskun, T. (2022). Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism. J Pediatr Endocrinol Metab, 35(11), 1345-1356. https://doi.org/10.1515/jpem-2021-0780

van Rappard, D. F., Boelens, J. J., & Wolf, N. I. (2015). Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. Best Pract Res Clin Endocrinol Metab, 29(2), 261-273. https://doi.org/10.1016/j.beem.2014.10.001

Wojewoda, M., Zablocki, K., & Szczepanowska, J. (2011). [Diseases caused by mutations in mitochondrial DNA]. Postepy Biochem, 57(2), 222-229. https://www.ncbi.nlm.nih.gov/pubmed/21913424 (Choroby spowodowane mutacjami w mitochondrialnym DNA.)

Aboitiz, F., & Zamorano, F. (2013). Neural progenitors, patterning and ecology in neocortical origins. Front Neuroanat, 7, 38. https://doi.org/10.3389/fnana.2013.00038

Aitkenhead, L., Krishna, G., Ellerton, C., Moinuddin, M., Matcham, J., Shiel, L., . . . Murphy, E. (2021). Long-term cognitive and psychosocial outcomes in adults with phenylketonuria. J Inherit Metab Dis, 44(6), 1353-1368. https://doi.org/10.1002/jimd.12413

Aubourg, P., & Wanders, R. (2013). Peroxisomal disorders. Handb Clin Neurol, 113, 1593-1609. https://doi.org/10.1016/B978-0-444-59565-2.00028-9

Barateiro, A., Brites, D., & Fernandes, A. (2016). Oligodendrocyte Development and Myelination in Neurodevelopment: Molecular Mechanisms in Health and Disease. Curr Pharm Des, 22(6), 656-679. https://doi.org/10.2174/1381612822666151204000636

Bauernfeind, A. L., & Babbitt, C. C. (2014). The appropriation of glucose through primate neurodevelopment. J Hum Evol, 77, 132-140. https://doi.org/10.1016/j.jhevol.2014.05.016

Bayat, A., Moller, L. B., & Lund, A. M. (2015). [Diagnostics and treatment of phenylketonuria]. Ugeskr Laeger, 177(8). https://www.ncbi.nlm.nih.gov/pubmed/25697170 (Diagnostik og behandling af fenylketonuri.)

Beneto, N., Vilageliu, L., Grinberg, D., & Canals, I. (2020). Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. Int J Mol Sci, 21(21). https://doi.org/10.3390/ijms21217819

Bertipaglia, C., Goncalves, J. C., & Vallee, R. B. (2018). Nuclear migration in mammalian brain development. Semin Cell Dev Biol, 82, 57-66. https://doi.org/10.1016/j.semcdb.2017.11.033

Bouchereau, J., Leduc-Leballeur, J., Pichard, S., Imbard, A., Benoist, J. F., Abi Warde, M. T., . . . Schiff, M. (2017). Neurocognitive profiles in MSUD school-age patients. J Inherit Metab Dis, 40(3), 377-383. https://doi.org/10.1007/s10545-017-0033-7

Bradbury, A. M., Bongarzone, E. R., & Sands, M. S. (2021). Krabbe disease: New hope for an old disease. Neurosci Lett, 752, 135841. https://doi.org/10.1016/j.neulet.2021.135841

Casey, L. (2013). Caring for children with phenylketonuria. Can Fam Physician, 59(8), 837-840. https://www.ncbi.nlm.nih.gov/pubmed/23946023

Cortes-Saladelafont, E., Lipstein, N., & Garcia-Cazorla, A. (2018). Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle. J Inherit Metab Dis, 41(6), 1131-1145. https://doi.org/10.1007/s10545-018-0230-z

Dietrich, K. N., Eskenazi, B., Schantz, S., Yolton, K., Rauh, V. A., Johnson, C. B., . . . Berman, R. F. (2005). Principles and practices of neurodevelopmental assessment in children: lessons learned from the Centers for Children's Environmental Health and Disease Prevention Research. Environ Health Perspect, 113(10), 1437-1446. https://doi.org/10.1289/ehp.7672

Elumalai, V., & Pasrija, D. (2022). Zellweger Syndrome. In StatPearls. https://www.ncbi.nlm.nih.gov/pubmed/32809511

Farhy-Tselnicker, I., & Allen, N. J. (2018). Astrocytes, neurons, synapses: a tripartite view on cortical circuit development. Neural Dev, 13(1), 7. https://doi.org/10.1186/s13064-018-0104-y

Fumagalli, M., Lecca, D., Abbracchio, M. P., & Ceruti, S. (2017). Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases. Front Pharmacol, 8, 941. https://doi.org/10.3389/fphar.2017.00941

Hu, W. F., Chahrour, M. H., & Walsh, C. A. (2014). The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet, 15, 195-213. https://doi.org/10.1146/annurev-genom-090413-025600

Koc Yekeduz, M., Sen Akova, B., Kose, E., Dogulu, N., Oncul, U., Okulu, E., . . . Eminoglu, F. T. (2022). Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study. Clin Neurol Neurosurg, 222, 107474. https://doi.org/10.1016/j.clineuro.2022.107474

Marsh, D., & Dragich, J. M. (2019). Autophagy in mammalian neurodevelopment and implications for childhood neurological disorders. Neurosci Lett, 697, 29-33. https://doi.org/10.1016/j.neulet.2018.04.017

Nicoli, E. R., Annunziata, I., d'Azzo, A., Platt, F. M., Tifft, C. J., & Stepien, K. M. (2021). GM1 Gangliosidosis-A Mini-Review. Front Genet, 12, 734878. https://doi.org/10.3389/fgene.2021.734878

Orsini, J. J., Escolar, M. L., Wasserstein, M. P., & Caggana, M. (1993). Krabbe Disease. In M. P. Adam, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, & A. Amemiya (Eds.), GeneReviews((R)). https://www.ncbi.nlm.nih.gov/pubmed/20301416

Paprocka, J., & Jamroz, E. (2012). Hyperammonemia in children: on the crossroad of different disorders. Neurologist, 18(5), 261-265. https://doi.org/10.1097/NRL.0b013e318266f58a

Porta, F., Pagliardini, S., Pagliardini, V., Ponzone, A., & Spada, M. (2015). Newborn screening for galactosemia: a 30-year single center experience. World J Pediatr, 11(2), 160-164. https://doi.org/10.1007/s12519-015-0017-3

Rahman, M., Sharma, M., Aggarwal, P., Singla, S., & Jain, N. (2022). Homocystinuria and ocular complications - A review. Indian J Ophthalmol, 70(7), 2272-2278. https://doi.org/10.4103/ijo.IJO_309_22

Raina, R., Bedoyan, J. K., Lichter-Konecki, U., Jouvet, P., Picca, S., Mew, N. A., . . . Warady, B. A. (2020). Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. Nat Rev Nephrol, 16(8), 471-482. https://doi.org/10.1038/s41581-020-0267-8

Reddy, N., Calloni, S. F., Vernon, H. J., Boltshauser, E., Huisman, T., & Soares, B. P. (2018). Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Radiographics, 38(3), 912-931. https://doi.org/10.1148/rg.2018170042

Rice, D., & Barone, S., Jr. (2000). Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environ Health Perspect, 108 Suppl 3(Suppl 3), 511-533. https://doi.org/10.1289/ehp.00108s3511

Rubio-Agusti, I., Carecchio, M., Bhatia, K. P., Kojovic, M., Parees, I., Chandrashekar, H. S., . . . Murphy, E. (2013). Movement disorders in adult patients with classical galactosemia. Mov Disord, 28(6), 804-810. https://doi.org/10.1002/mds.25348

Saudubray, J. M., & Garcia-Cazorla, A. (2018). An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci, 20(4), 301-325. https://doi.org/10.31887/DCNS.2018.20.4/jmsaudubray

Sitarska, D., Tylki-Szymanska, A., & Lugowska, A. (2021). Treatment trials in Niemann-Pick type C disease. Metab Brain Dis, 36(8), 2215-2221. https://doi.org/10.1007/s11011-021-00842-0

Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., . . . Berger, M. G. (2017). A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci, 18(2). https://doi.org/10.3390/ijms18020441

Unsal, Y., Yurdakok, M., Yigit, S., Celik, H. T., Dursun, A., Sivri, H. S., . . . Coskun, T. (2022). Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism. J Pediatr Endocrinol Metab, 35(11), 1345-1356. https://doi.org/10.1515/jpem-2021-0780

van Rappard, D. F., Boelens, J. J., & Wolf, N. I. (2015). Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. Best Pract Res Clin Endocrinol Metab, 29(2), 261-273. https://doi.org/10.1016/j.beem.2014.10.001

Wojewoda, M., Zablocki, K., & Szczepanowska, J. (2011). [Diseases caused by mutations in mitochondrial DNA]. Postepy Biochem, 57(2), 222-229. https://www.ncbi.nlm.nih.gov/pubmed/21913424 (Choroby spowodowane mutacjami w mitochondrialnym DNA.)