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1982 1
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2023 1

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Page 1
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review.
Shafieipour N, Jafari Khamirani H, Kamal N, Tabei SMB, Dianatpour M, Dastgheib SA. Shafieipour N, et al. Eur J Med Genet. 2023 Apr;66(4):104707. doi: 10.1016/j.ejmg.2023.104707. Epub 2023 Jan 26. Eur J Med Genet. 2023. PMID: 36709796 Review.
Pathogenic variants in ACACA are the cause of acetyl-CoA carboxylase deficiency with an autosomal recessive inheritance that is identified by hypotonia, motor, and intellectual developmental delay. ...Finally, we describe an individual-based review of …
Pathogenic variants in ACACA are the cause of acetyl-CoA carboxylase deficiency with an autosomal recessive inhe …
Enzyme studies in biotin-responsive disorders.
Bartlett K, Ghneim HK, Stirk HJ, Wastell H. Bartlett K, et al. J Inherit Metab Dis. 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659. J Inherit Metab Dis. 1985. PMID: 2864473 Review.
There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylation of apocarboxylases due to a mutation of holocarboxylase synthetase (EC 6.3.4.10) which results in an enzyme with a high Km with respect to …
There appear to be at least two underlying aetiologies for combined carboxylase deficiency; firstly, a failure of biotinylatio …
The biotin-dependent carboxylase deficiencies.
Wolf B, Feldman GL. Wolf B, et al. Am J Hum Genet. 1982 Sep;34(5):699-716. Am J Hum Genet. 1982. PMID: 6127031 Free PMC article. Review. No abstract available.
Biotin in human nutrition.
Bonjour JP. Bonjour JP. Ann N Y Acad Sci. 1985;447:97-104. doi: 10.1111/j.1749-6632.1985.tb18428.x. Ann N Y Acad Sci. 1985. PMID: 2861782 Review. No abstract available.
Vitamin-responsive inborn errors of metabolism.
Bartlett K. Bartlett K. Adv Clin Chem. 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. Adv Clin Chem. 1983. PMID: 6152513 Review. No abstract available.