Maina P. Kava - Search Results

Year	Number of Results
2002	1
2004	1
2008	1
2009	1
2011	1
2016	1
2018	2
2019	3
2020	2
2021	1
2022	1
2024	0

1

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Hertzog A, Selvanathan A, Pandithan D, Kim WT, Kava MP, Boneh A, Coman D, Tolun AA, Bhattacharya K. Hertzog A, et al. Among authors: kava mp. JIMD Rep. 2022 Sep 14;63(6):568-574. doi: 10.1002/jmd2.12332. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341175 Free PMC article.

2

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.

Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP, Minoche AE, Cowley MJ, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: kava mp. Genes (Basel). 2021 Apr 20;12(4):607. doi: 10.3390/genes12040607. Genes (Basel). 2021. PMID: 33924034 Free PMC article.

3

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

Kava MP, Bryant L, Rowe P, Lewis B, Greed L, Balasubramaniam S. Kava MP, et al. JIMD Rep. 2020 Apr 13;54(1):9-15. doi: 10.1002/jmd2.12121. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685344 Free PMC article.

4

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Lewis H, Samanta D, Örsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fernández-Jaén A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Lewis H, et al. Among authors: kava mp. Pediatr Neurol. 2020 Nov;112:94-100. doi: 10.1016/j.pediatrneurol.2020.04.006. Epub 2020 Apr 13. Pediatr Neurol. 2020. PMID: 32446642

5

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: kava mp. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.

6

Erythropoietic protoporphyria: A rare cause of painful hands and feet.

Juengling AM, Boulter EL, Kava MP. Juengling AM, et al. Among authors: kava mp. J Paediatr Child Health. 2019 Feb;55(2):236-238. doi: 10.1111/jpc.14244. Epub 2018 Oct 4. J Paediatr Child Health. 2019. PMID: 30288822 No abstract available.

7

Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.

Kava MP, Robertson A, Greed L, Balasubramaniam S. Kava MP, et al. Eur J Clin Nutr. 2019 Jun;73(6):961-965. doi: 10.1038/s41430-018-0286-8. Epub 2018 Aug 14. Eur J Clin Nutr. 2019. PMID: 30108280

8

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO. Nickerson SL, et al. Among authors: kava mp. J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15. J Pediatr Genet. 2016. PMID: 27617160 Free PMC article.

9

Horner's syndrome in a child with otitis media: an unusual complication.

Kava MP, Bynevelt M, Lannigan F, Nagarajan L. Kava MP, et al. Pediatr Neurol. 2011 Sep;45(3):209-10. doi: 10.1016/j.pediatrneurol.2011.05.006. Pediatr Neurol. 2011. PMID: 21824575 No abstract available.

10

Microphthalmia and microcornea: in congenital cytomegalovirus.

Kava MP, Nagarajan L. Kava MP, et al. Indian J Ophthalmol. 2009 Jul-Aug;57(4):323. doi: 10.4103/0301-4738.53065. Indian J Ophthalmol. 2009. PMID: 19574708 Free PMC article. No abstract available.

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