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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

Authors+Show Affiliations

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

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 -