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Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
Neurol India 2018 Nov-Dec; 66(6):1802-1804NI

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  • Publisher Full Text

    • Authors+Show Affiliations

    Sundaram S
    Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
    Nair M
    Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
    Namboodhiri S
    Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
    Menon RN
    Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

    MeSH

    Acetyl-CoA C-AcetyltransferaseAcetyl-CoA C-AcyltransferaseAmino Acid Metabolism, Inborn ErrorsBrainGenetic Predisposition to DiseaseHomozygoteHumansInfantMaleMetabolomeMutation

    Pub Type(s)

    Case Reports
    Letter

    Language

    eng

    PubMed ID

    30504584

    Citation

    Sundaram, Soumya, et al. "Mitochondrial acetoacetyl-CoA Thiolase Enzyme Deficiency in a 9-month Old Boy: Atypical Urinary Metabolic Profile With a Novel Homozygous Mutation in ACAT1 Gene." Neurology India, vol. 66, no. 6, 2018, pp. 1802-1804.
    Sundaram S, Nair M, Namboodhiri S, et al. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene. Neurol India. 2018;66(6):1802-1804.
    Sundaram, S., Nair, M., Namboodhiri, S., & Menon, R. N. (2018). Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene. Neurology India, 66(6), pp. 1802-1804. doi:10.4103/0028-3886.246264.
    Sundaram S, et al. Mitochondrial acetoacetyl-CoA Thiolase Enzyme Deficiency in a 9-month Old Boy: Atypical Urinary Metabolic Profile With a Novel Homozygous Mutation in ACAT1 Gene. Neurol India. 2018;66(6):1802-1804. PubMed PMID: 30504584.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene. AU - Sundaram,Soumya, AU - Nair,Muralidharan, AU - Namboodhiri,Sheela, AU - Menon,Ramshekhar N, PY - 2018/12/4/entrez PY - 2018/12/7/pubmed PY - 2019/10/1/medline SP - 1802 EP - 1804 JF - Neurology India JO - Neurol India VL - 66 IS - 6 N2 - SN - 0028-3886 UR - https://www.unboundmedicine.com/medline/citation/30504584/Mitochondrial_acetoacetyl_CoA_thiolase_enzyme_deficiency_in_a_9_month_old_boy:_Atypical_urinary_metabolic_profile_with_a_novel_homozygous_mutation_in_ACAT1_gene_ L2 - http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2018;volume=66;issue=6;spage=1802;epage=1804;aulast=Sundaram DB - PRIME DP - Unbound Medicine ER -