Book contents
- Progressive Brain Disorders in Childhood
- Progressive Brain Disorders in Childhood
- Copyright page
- Dedication
- Dedication
- Contents
- Preface
- Section 1 Introduction
- Section 2 Rise and Decline of the Child
- Section 3 Mechanisms of Neurological Loss of Function
- Section 4 Neurodegenerative and Other Progressive Disorders in Childhood
- Progressive in Utero Disorders
- Newborn Disorders
- Disorders of Infancy
- Childhood Disorders
- Adolescent Disorders
- Section 5 Regression in Other Neurological and Psychiatric Disorders
- Section 6 Induced Regression
- Index
- References
Newborn Disorders
from Section 4 - Neurodegenerative and Other Progressive Disorders in Childhood
Published online by Cambridge University Press: 28 April 2017
Book contents
- Progressive Brain Disorders in Childhood
- Progressive Brain Disorders in Childhood
- Copyright page
- Dedication
- Dedication
- Contents
- Preface
- Section 1 Introduction
- Section 2 Rise and Decline of the Child
- Section 3 Mechanisms of Neurological Loss of Function
- Section 4 Neurodegenerative and Other Progressive Disorders in Childhood
- Progressive in Utero Disorders
- Newborn Disorders
- Disorders of Infancy
- Childhood Disorders
- Adolescent Disorders
- Section 5 Regression in Other Neurological and Psychiatric Disorders
- Section 6 Induced Regression
- Index
- References
Summary
A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
- Type
- Chapter
- Information
- Progressive Brain Disorders in Childhood , pp. 41 - 97Publisher: Cambridge University PressPrint publication year: 2017
References
Bibliography
Braverman, N.E., Raymond, G.V., Rizzo, W.B., et al (2016). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 117(3):313–21.CrossRefGoogle ScholarPubMed
Cho, S.Y., Chang, Y.P., Park, J.Y., et al (2011). Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. Ann Clin Lab Sci. 41(2):182–7.Google Scholar
Bibliography
Klouwer, F.C., Berendse, K., Ferdinandusse, S., et al (2015). Zellweger spectrum disorders: Clinical overview and management approach. Orphanet J Rare Dis. 10:151.CrossRefGoogle ScholarPubMed
Bibliography
Ganetzky, R.D., Bloom, K., Ahrens-Nicklas, R., et al ECHS1 deficiency as a cause of severe neonatal lactic acidosis. JIMD Rep. [in press].Google Scholar
Pirot, N., Crahes, M., Adle-Biassette, H., et al (2016). Phenotypic and neuropathological characterization of fetal pyruvate dehydrogenase deficiency. J Neuropathol Exp Neurol. 75(3):227–38.CrossRefGoogle ScholarPubMed
Bibliography
Marin-Valencia, I., Roe, C.R., Pascual, J.M. (2010). Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis. Mol Genet Metab. 101(1):9–17.CrossRefGoogle ScholarPubMed
Ortez, C., Jou, C., Cortès-Saladelafont, E., et al (2013). Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. Gene. 532(2):302–6.CrossRefGoogle Scholar
Bibliography
Bourgeron, T., Chretien, D., Poggi-Bach, J., et al (1994). Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest. 93(6):2514–18.CrossRefGoogle ScholarPubMed
Pithukpakorn, M. (2005). Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. 85(4):243–6.Google ScholarPubMed
Bibliography
DiMauro, S., Garone, C. (2011). Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. Semin Fetal Neonatal Med. 16(4):181–89.CrossRefGoogle ScholarPubMed
DiMauro, S., Nicholson, J.F., Hays, A.P., et al (1983). Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol. 14(2):226–34.CrossRefGoogle ScholarPubMed
Bibliography
Burlina, A.B., Bonafé, L., Zacchello, F. (1999). Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism. Semin Perinatol. 23(2):162–73.CrossRefGoogle Scholar
Seashore, M.R., Seashore, C.J. (2005). Newborn screening and the pediatric practitioner. Semin Perinatol. 29(3):182–8.CrossRefGoogle ScholarPubMed
Bibliography
Chen, L.W., Tsai, Y.S., Huang, C.C. (2014). Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutation. Pediatr Neurol. 51(1):181–2.CrossRefGoogle Scholar
Reiss, J., Hahnewald, R. (2011). Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat. 32(1):10–18.CrossRefGoogle ScholarPubMed
Bibliography
Gelfand, A.A., Sznewajs, A., Glass, H.C., et al. (2011). Clinical Reasoning: An encephalopathic 3-day-old infant. Neurology. 77(1):e1–5.CrossRefGoogle ScholarPubMed
Häberle, J., Boddaert, N., Burlina, A., et al. (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 7:32.CrossRefGoogle ScholarPubMed
Helman, G., Pacheco-Colón, I., Gropman, A.L. (2014). The urea cycle disorders. Semin Neurol. 34(3):341–9.CrossRefGoogle ScholarPubMed
Bibliography
Haagerup, A., Andersen, J.B., Blichfeldt, S., et al. (1997). Biotinidase deficiency: Two cases of very early presentation. Dev Med Child Neurol. 39(12):832–5.Google ScholarPubMed
Wolf, B. (2012). Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genet Med. 14(6):565–75.CrossRefGoogle Scholar
Bibliography
Cirillo, M., Venkatesan, C., Millichap, J.J., et al. (2015). Case report: Intravenous and oral pyridoxine trial for diagnosis of pyridoxine-dependent epilepsy. Pediatrics. 136(1):e257–61.CrossRefGoogle ScholarPubMed
Clayton, P.T. (2006). B6-responsive disorders: A model of vitamin dependency. J Inherit Metab Dis. 29(2–3):317–26.CrossRefGoogle Scholar
Jansen, L.A., Hevner, R.F., Roden, W.H., et al. (2014). Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy. Ann Neurol. 75(1):22–32.CrossRefGoogle ScholarPubMed
Bibliography
Burrage, L.C., Nagamani, S.C., Campeau, P.M., et al. (2014). Branched-chain amino acid metabolism: From rare Mendelian diseases to more common disorders. Hum Mol Genet. 23(R1):R1–8.CrossRefGoogle ScholarPubMed
Chin, H.L., Aw, M.M., Quak, S.H., et al. (2015). Two consecutive partial liver transplants in a patient with classic maple syrup urine disease. Mol Genet Metab Rep. 4:49–52.Google Scholar
Bibliography
Iqbal, M., Prasad, M., Mordekar, S.R. (2015). Nonketotic hyperglycinemia case series. J Pediatr Neurosci. 10(4):355–8.Google ScholarPubMed
Noble-Jamieson, G., Jamieson, N., Clayton, P., et al. (1994). Neurological crisis in hereditary tyrosinaemia and complete reversal after liver transplantation. Arch Dis Child. 70(6):544–5.CrossRefGoogle ScholarPubMed
Ogier de Baulny, H., Schiff, M., Dionisi-Vici, C. (2012). Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder. Mol Genet Metab. 106(1):12–17.CrossRefGoogle ScholarPubMed
Bibliography
Freeze, H.H., Eklund, E.A., Ng, B.G., et al. (2015). Neurological aspects of human glycosylation disorders. Annu Rev Neurosci. 38:105–25.CrossRefGoogle ScholarPubMed
Vesela, K., Honzik, T., Hansikova, H., et al. (2009). A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis. 32 Suppl 1.CrossRefGoogle ScholarPubMed
Wolfe, L.A., Krasnewich, D. (2013). Congenital disorders of glycosylation and intellectual disability. Dev Disabil Res Rev. 17(3):211–25.CrossRefGoogle ScholarPubMed