Acute profound lactic acidosis associated with NDUFV1 cmpound heterozygosity in a previously healthy 6-year-old female.

Kaler SG, Fyke W, Lignelli-Dipple A, Emmanuele V, Lee EB, Lee HK, Munk A, Morales Corado JA, Iglesias A, Mehrotra P. Mol Genet Metab Rep. 2025;45:101249. doi:10.1016/j.ymgmr.2025.101249.

Clinical Characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications.

Morales JA, Curry CJ, Tise CG, Kratz L, Enns GM. J Transl Genet Genom. 2022;6:257-265. doi:10.20517/jtgg.2022.01

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.

Morales JA, Tise CG, Narang A, Grimm PC, Enns GM, Lee CU. Mol Genet Metab Rep. 2021;27:100765. doi: 10.1016/j.ymgmr.2021.100765. PMID: 34277355.

Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation.

Standish-Parkin L, Morales JA, Zahouani T, Carugno P, Prokhorov S. J Med Diagn Meth. 2017;06. doi:10.4172/2168-9784.1000245.

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

Morales A, Poling MI, Páez MT, Cabrera J, McCormick RJ. BMJ Case Rep. 2015:bcr2015210688. doi: 10.1136/bcr-2015-210688. PMID: 26160551.

Acute profound lactic acidosis associated with NDUFV1 cmpound heterozygosity in a previously healthy 6-year-old female.

Clinical Characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications.

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.

Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation.

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

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