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Items: 1 to 20 of 54

1.
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency
Youssef Khalil, Emma Footitt, Reddy Vootukuri, Michael F. Wempe, Curtis R. Coughlin, II, Spyros Batzios, Matthew P. Wilson, Viktor Kožich, Peter T. Clayton, Philippa B. Mills
J Inherit Metab Dis. 2025 Jan; 48(1): e12783. Published online 2024 Jul 22. doi: 10.1002/jimd.12783
PMCID:
PMC11670438
AbstractArticlePDF–2.1M
2.
Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
Elise A. Ferreira, Floris C. Hofstede, Hanneke A. Haijes-Siepel, Klaske D. Lichtenbelt, Lou Pistorius, Monique G.M. de Sain-van der Velden, Peter G.J. Nikkels, Maarten H. Lequin, Linda S. de Vries, Saskia N. van der Crabben, Peter M. van Hasselt
Genet Med Open. 2024; 2: 101853. Published online 2024 May 24. doi: 10.1016/j.gimo.2024.101853
PMCID:
PMC11613691
AbstractArticlePDF–2.0M
3.
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1
Afrasiab Khan, Anees Muhammad, Hidayat Ullah, Hina Ambreen, Abeed Ullah, Patrick May, Holger Lerche, Tobias B. Haack, Shoaib ur Rehman, Josua Kegele
Clin Genet. 2025 Jan; 107(1): 98–103. Published online 2024 Oct 14. doi: 10.1111/cge.14627
PMCID:
PMC11608837
AbstractArticlePDF–1.0M
4.
Epilepsia y errores congénitos del metabolismo
Sara Moya-López, Alejandra Ruiz-Colodrero, Javier Sainz-García, Violeta Fariña-Jara, M. Concepción García-Jiménez, Esperanza Castejón-Ponce, Javier López-Pisón, Raquel Pérez-Delgado
Rev Neurol. 2024; 79(5): 129–135. Spanish. Published online 2024 Sep 1. doi: 10.33588/rn.7905.2024088
PMCID:
PMC11469104
AbstractArticlePDF–622K
5.
Molybdenum’s Role as an Essential Element in Enzymes Catabolizing Redox Reactions: A Review
Jakub Piotr Adamus, Anna Ruszczyńska, Aleksandra Wyczałkowska-Tomasik
Biomolecules. 2024 Jul; 14(7): 869. Published online 2024 Jul 19. doi: 10.3390/biom14070869
PMCID:
PMC11275037
AbstractArticlePDF–3.5M
6.
A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant
Jamal Sayed, Abdallah Nasir, Ahmed Gamal Sayed, Omar A. Alghamdi, Elaf Jameel Alsharif
Clin Case Rep. 2024 Jul; 12(7): e9169. Published online 2024 Jul 11. doi: 10.1002/ccr3.9169
PMCID:
PMC11239530
AbstractArticlePDF–966K
7.
Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans
Kurt Warnhoff, Sushila Bhattacharya, Jennifer Snoozy, Peter C Breen, Gary Ruvkun
eLife. 2024; 12: RP89173. Published online 2024 Feb 13. doi: 10.7554/eLife.89173
PMCID:
PMC10942545
AbstractArticlePDF–3.0M
8.
A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria
Haidara Kardah, Hamza Al-zoubi, Zahra Odeh, Ranim Joumaa, Diana Alasmar
Ann Med Surg (Lond) 2024 Mar; 86(3): 1762–1765. Published online 2024 Jan 30. doi: 10.1097/MS9.0000000000001778
PMCID:
PMC10923373
AbstractArticlePDF–434K
9.
Molybdenum – a scoping review for Nordic Nutrition Recommendations 2023
Agneta Oskarsson, Maria Kippler
Food Nutr Res. 2023; 67: 10.29219/fnr.v67.10326. Published online 2023 Dec 14. doi: 10.29219/fnr.v67.10326
PMCID:
PMC10770642
AbstractArticlePDF–529K
10.
The History of Animal and Plant Sulfite Oxidase—A Personal View
Ralf R. Mendel, Günter Schwarz
Molecules. 2023 Oct; 28(19): 6998. Published online 2023 Oct 9. doi: 10.3390/molecules28196998
PMCID:
PMC10574614
AbstractArticlePDF–3.3M
11.
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report
Montaha Almudhry, Asuri N. Prasad, C. Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Chitra Prasad
Front Neurol. 2023; 14: 1214137. Published online 2023 Sep 15. doi: 10.3389/fneur.2023.1214137
PMCID:
PMC10542394
AbstractArticlePDF–400K
12.
A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report
Giulia Lucignani, Leonardo Vattermoli, Maria Camilla Rossi-Espagnet, Alessia Guarnera, Antonio Napolitano, Lorenzo Figà-Talamanca, Francesca Campi, Sara Ronci, Carlo Dionisi Vici, Diego Martinelli, Carlo Gandolfo, Daniela Longo
Children (Basel) 2023 Jun; 10(6): 1072. Published online 2023 Jun 17. doi: 10.3390/children10061072
PMCID:
PMC10297563
AbstractArticlePDF–1.5M
13.
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
AbstractArticlePDF–1.0M
14.
Obtaining the necessary molybdenum cofactor for sulfite oxidase activity in the nematode Caenorhabditis elegans surprisingly involves a dietary source
Kevin D. Oliphant, Robin R. Fettig, Jennifer Snoozy, Ralf R. Mendel, Kurt Warnhoff
J Biol Chem. 2023 Jan; 299(1): 102736. Published online 2022 Nov 22. doi: 10.1016/j.jbc.2022.102736
PMCID:
PMC9793310
AbstractArticlePDF–2.3M
15.
Molybdenum Cofactor Deficiency in Humans
Lena Johannes, Chun-Yu Fu, Günter Schwarz
Molecules. 2022 Oct; 27(20): 6896. Published online 2022 Oct 14. doi: 10.3390/molecules27206896
PMCID:
PMC9607355
AbstractArticlePDF–1.9M
16.
Molybdenum cofactor deficiency: A natural history
Ronen Spiegel, Bernd C. Schwahn, Liza Squires, Nils Confer
J Inherit Metab Dis. 2022 May; 45(3): 456–469. Published online 2022 Mar 3. doi: 10.1002/jimd.12488
PMCID:
PMC9313850
AbstractArticlePDF–2.0M
17.
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
AbstractArticlePDF–3.6M
18.
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
Raffaele Falsaperla, Laura Sciuto, Luisa La Spina, Sarah Sciuto, Andrea D. Praticò, Martino Ruggieri
Metab Brain Dis. 2021; 36(8): 2195–2203. Published online 2021 Aug 17. doi: 10.1007/s11011-021-00798-1
PMCID:
PMC8580891
AbstractArticlePDF–1.0M
19.
CT and MR appearance of the brain in two children with molybdenum cofactor deficiency.
B A Appignani, E M Kaye, S M Wolpert
AJNR Am J Neuroradiol. 1996 Feb; 17(2): 317-20.
PMCID:
PMC8338385
SummaryPDF–312K
20.
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
AbstractArticlePDF–439K

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