PMC Articles for MedGen (Select 340760) - PMC

Select item 100483001.

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Maria Tofilo, Natalia Voronova, Leila Nigmatullina, Elena Kuznetsova, Valeria Timonina, Bogdan Efimenko, Oybek Turgunkhujaev, Svetlana Avdeichik, Muhammad Ansar, Konstantin Popadin, Anastasia Kirillova, Ilya Mazunin

Genes (Basel) 2023 Mar; 14(3): 720. Published online 2023 Mar 15. doi: 10.3390/genes14030720

PMCID:: PMC10048300

Abstract Article PDF–1.0M

Select item 91783342.

Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B

Wenjia Yan, Li Huang, Limei Sun, Xiaoyan Ding

Am J Ophthalmol Case Rep. 2022 Sep; 27: 101586. Published online 2022 May 14. doi: 10.1016/j.ajoc.2022.101586

PMCID:: PMC9178334

Abstract Article PDF–3.6M

Select item 82710463.

Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B

Edward Jin Lee, Raja Dandamudi, Jorge L. Granadillo, Dorothy Katherine Grange, Aadil Kakajiwala

CEN Case Rep. 2021 Aug; 10(3): 378–382. Published online 2021 Jan 27. doi: 10.1007/s13730-021-00572-3

PMCID:: PMC8271046

Abstract Article PDF–439K

Select item 81078824.

A neonate with molybdenum cofactor deficiency type B

Yuanyuan Lin, Yanli Liu, Si Chen, Jianghu Zhu, Yumei Huang, Zhenlang Lin, Shangqin Chen

Transl Pediatr. 2021 Apr; 10(4): 1039–1044. doi: 10.21037/tp-20-357

PMCID:: PMC8107882

Abstract Article PDF–1.5M

Select item 76022735.

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska

Diagnostics (Basel) 2020 Oct; 10(10): 821. Published online 2020 Oct 14. doi: 10.3390/diagnostics10100821

PMCID:: PMC7602273

Abstract Article PDF–972K

Select item 63044316.

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg

Mol Genet Metab Rep. 2019 Mar; 18: 11–13. Published online 2018 Dec 20. doi: 10.1016/j.ymgmr.2018.12.003

PMCID:: PMC6304431

Abstract Article PDF–440K

Select item 13777877.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

J Reiss, C Dorche, B Stallmeyer, R R Mendel, N Cohen, M T Zabot

Am J Hum Genet. 1999 Mar; 64(3): 706–711. doi: 10.1086/302296

PMCID:: PMC1377787

Summary PDF–230K

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