Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder
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[1] C. Engelman,et al. Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools , 2019, Genetics in Medicine.
[2] S. Naushad,et al. Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders , 2018, Journal of biochemistry.
[3] M. Suijker,et al. Coagulopathy in Zellweger spectrum disorders: a role for vitamin K , 2017, Journal of Inherited Metabolic Disease.
[4] S. Ferdinandusse,et al. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders , 2017, Journal of Inherited Metabolic Disease.
[5] Mohammad Afzal,et al. Genetics of consanguinity and inbreeding in health and disease , 2017, Annals of human biology.
[6] Michael F. Wangler,et al. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. , 2016, Molecular genetics and metabolism.
[7] S. Subramani,et al. Distinct requirements for intra-ER sorting and budding of peroxisomal membrane proteins from the ER , 2016, The Journal of cell biology.
[8] K. Abu-Amero,et al. Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. , 2015, Pediatrics and neonatology.
[9] S. Ferdinandusse,et al. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 , 2015, American journal of human genetics.
[10] K. Okumoto,et al. Peroxisome biogenesis in mammalian cells , 2014, Front. Physiol..
[11] N. Braverman,et al. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. , 2013, Developmental disabilities research reviews.
[12] G. Raymond,et al. Child Neurology: Zellweger syndrome , 2013, Neurology.
[13] A. Tylki-Szymańska,et al. The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels , 2013, Lipids.
[14] H. Waterham,et al. Genetics and molecular basis of human peroxisome biogenesis disorders. , 2012, Biochimica et biophysica acta.
[15] N. Shimozawa. Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases , 2011, Brain and Development.
[16] A. Moser,et al. Investigational Methods for Peroxisomal Disorders , 2008, Current protocols in human genetics.
[17] H. Moser,et al. Peroxisome biogenesis disorders. , 2006, Biochimica et biophysica acta.
[18] Ronald J A Wanders,et al. Biochemistry of mammalian peroxisomes revisited. , 2006, Annual review of biochemistry.
[19] J. Grayer. RECOGNITION OF ZELLWEGER SYNDROME IN INFANCY , 2005, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.
[20] H. Waterham,et al. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism , 2004, Human mutation.
[21] B. Geisbrecht,et al. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[22] H. Moser,et al. Peroxisome assembly mutations in humans: Structural heterogeneity in Zellweger syndrome , 1992, Journal of cellular physiology.