PubMed for id: 381530

Year	Number of Results
1989	1
1993	2
1995	1
1996	4
1997	2
1998	3
1999	2
2000	5
2001	4
2002	2
2003	3
2004	2
2005	4
2006	4
2007	2
2009	2
2010	4
2011	1
2012	4
2013	3
2014	2
2015	3
2016	6
2017	6
2018	4
2019	4
2020	2
2021	6
2022	3
2023	4

1

Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case.

Satar M, Kurtoğlu Aİ, Yıldızdaş HY, Önenli Mungan N, Özlü F, Bişgin A. Satar M, et al. Turk Arch Pediatr. 2021 Jan 1;56(1):78-80. doi: 10.14744/TurkPediatriArs.2020.57984. eCollection 2021 Jan. Turk Arch Pediatr. 2021. PMID: 34013236 Free PMC article.

2

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Yoshimura A, Kibe T, Hasegawa H, Ichida K, Koshimizu E, Miyatake S, Matsumoto N, Yokochi K. Yoshimura A, et al. Neuropediatrics. 2019 Apr;50(2):126-129. doi: 10.1055/s-0039-1677869. Epub 2019 Jan 29. Neuropediatrics. 2019. PMID: 30695801

3

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Lubout CMA, Derks TGJ, Meiners L, Erwich JJ, Bergman KA, Lunsing RJ, Schwarz G, Veldman A, van Spronsen FJ. Lubout CMA, et al. Eur J Paediatr Neurol. 2018 May;22(3):536-540. doi: 10.1016/j.ejpn.2017.11.006. Epub 2017 Nov 28. Eur J Paediatr Neurol. 2018. PMID: 29274890

4

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Schwahn BC, et al. Lancet. 2015 Nov 14;386(10007):1955-1963. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3. Lancet. 2015. PMID: 26343839

5

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-Lee J, Wong F, Ramsden CA, Reiss J, Cook I, Fairweather J, Schwarz G. Veldman A, et al. Pediatrics. 2010 May;125(5):e1249-54. doi: 10.1542/peds.2009-2192. Epub 2010 Apr 12. Pediatrics. 2010. PMID: 20385644

6

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.

Shalata A, Mandel H, Dorche C, Zabot MT, Shalev S, Hugeirat Y, Arieh D, Ronit Z, Reiss J, Anbinder Y, Cohen N. Shalata A, et al. Prenat Diagn. 2000 Jan;20(1):7-11. Prenat Diagn. 2000. PMID: 10701843

7

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C. Reiss J, et al. Hum Genet. 1998 Dec;103(6):639-44. doi: 10.1007/s004390050884. Hum Genet. 1998. PMID: 9921896

8

[Novel therapies in neurometabolic diseases: the importance of early intervention].

Gutierrez-Solana LG. Gutierrez-Solana LG. Rev Neurol. 2017 May 17;64(s03):S25-S28. Rev Neurol. 2017. PMID: 28524215 Free article. Review. Spanish.

9

Inborn errors of purine metabolism: clinical update and therapies.

Balasubramaniam S, Duley JA, Christodoulou J. Balasubramaniam S, et al. J Inherit Metab Dis. 2014 Sep;37(5):669-86. doi: 10.1007/s10545-014-9731-6. Epub 2014 Jun 28. J Inherit Metab Dis. 2014. PMID: 24972650

10

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].

Wu LH, Jiang Y, Hu Y. Wu LH, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2021 Apr;23(4):416-419. doi: 10.7499/j.issn.1008-8830.2101055. Zhongguo Dang Dai Er Ke Za Zhi. 2021. PMID: 33840416 Free PMC article. Chinese.

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