Nörometabolik Hastalıklarda Görüntüleme Bulgularına Genel Bakış

Schiffmann, R. and M.S. van der Knaap, Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology, 2009. 72(8): p. 750-9.

Bhatia, K.D., et al., Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution. AJNR Am J Neuroradiol, 2020. 41(1): p. 167-173.

Biswas, A., et al., Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide. Transl Pediatr, 2021. 10(4): p. 1201-1230.

Barkovich, A.J., An approach to MRI of metabolic disorders in children. J Neuroradiol, 2007. 34(2): p. 75-88.

Vanhanen, S.L., R. Raininko, and P. Santavuori, Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. AJNR Am J Neuroradiol, 1994. 15(8): p. 1443-53.

Biswas, A., et al., Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. AJNR Am J Neuroradiol, 2020. 41(10): p. 1930-1936.

Smith, J.K., J.K. Mah, and M. Castillo, Brain MR imaging findings in two patients with Alpers' syndrome. Clin Imaging, 1996. 20(4): p. 235-7.

Engelsen, B.A., et al., POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain, 2008. 131(Pt 3): p. 818-28.

Quadri, M., et al., Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. Mov Disord, 2015. 30(7): p. 996-1001.

Stamelou, M., et al., Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord, 2012. 27(10): p. 1317-22.

Herrero Hernandez, E., M.C. Valentini, and G. Discalzi, T1-weighted hyperintensity in basal ganglia at brain magnetic resonance imaging: are different pathologies sharing a common mechanism? Neurotoxicology, 2002. 23(6): p. 669-74.

Patay, Z., et al., Neurometabolic diseases of childhood. Pediatr Radiol, 2015. 45 Suppl 3: p. S473-84.

Malik, P., et al., Solving the hypomyelination conundrum - Imaging perspectives. Eur J Paediatr Neurol, 2020. 27: p. 9-24.

Sasaki, M., et al., MRI and CT findings in Krabbe disease. Pediatr Neurol, 1991. 7(4): p. 283-8.

Muthusamy, K., et al., Revisiting magnetic resonance imaging pattern of Krabbe disease - Lessons from an Indian cohort. J Clin Imaging Sci, 2019. 9: p. 25.

Chen, C.Y., et al., Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol, 1998. 19(9): p. 1628-30.

Hähnel, S. Brain MRI Abnormalities in Phenylketonuria An Update on MR Imaging and MR Volumetry. 2008.

Stellingwerff, M.D., et al., MRI Natural History of the Leukodystrophy Vanishing White Matter. Radiology, 2021. 300(3): p. 671-680.

van der Knaap, M.S., et al., Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol, 2001. 22(3): p. 541-52.

Grodd, W., et al., In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy. Lancet, 1990. 336(8712): p. 437-8.

van der Knaap, M.S., et al., Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol, 1995. 37(3): p. 324-34.

Steenweg, M.E., et al., L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology, 2009. 251(3): p. 856-65.

Muthusamy, K., et al., Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. J Clin Imaging Sci, 2019. 9: p. 3.

Otaduy, M.C., et al., Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. AJNR Am J Neuroradiol, 2006. 27(1): p. 204-7.

Chu, B.C., et al., MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology, 1999. 41(10): p. 759-64.

Robertson, W.C., Jr., et al., Basal ganglia calcification in Kearns-Sayre syndrome. Arch Neurol, 1979. 36(11): p. 711-3.

Chen, C.C., P.C. Chiu, and K.S. Shieh, Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. Zhonghua Yi Xue Za Zhi (Taipei), 1999. 62(1): p. 40-5.

Radmanesh, A., et al., Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. Pediatr Radiol, 2008. 38(10): p. 1054-61.

van der Knaap, M.S., et al., Unusual variants of Alexander's disease. Ann Neurol, 2005. 57(3): p. 327-38.

Poretti, A., et al., Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging, 2013. 37(2): p. 294-312.

Phillips, M.D., et al., Diffusion-weighted imaging of white matter abnormalities in patients with phenylketonuria. AJNR Am J Neuroradiol, 2001. 22(8): p. 1583-6.