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2025

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1985 1
1990 1
1998 1
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2013 2
2015 1
2016 1
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2018 3
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Page 1
Molybdenum cofactor deficiency.
Atwal PS, Scaglia F. Atwal PS, et al. Mol Genet Metab. 2016 Jan;117(1):1-4. doi: 10.1016/j.ymgme.2015.11.010. Epub 2015 Nov 25. Mol Genet Metab. 2016. PMID: 26653176 Review.
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. ...
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe n …
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structur …
This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-de …
Genetics of ectopia lentis.
Sadiq MA, Vanderveen D. Sadiq MA, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Semin Ophthalmol. 2013. PMID: 24138040 Review.
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. Herein we describe …
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, …
Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.
Hong SY, Lin CH. Hong SY, et al. Epilepsy Behav. 2023 Jun;143:109246. doi: 10.1016/j.yebeh.2023.109246. Epub 2023 May 13. Epilepsy Behav. 2023. PMID: 37187015 Review.
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group of rare and severe neurometabolic disorders caused by gene mutations that affect the sulfur-containing amino acid catabolic pathway. ...
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group o
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Reiss J, Hahnewald R. Reiss J, et al. Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Hum Mutat. 2011. PMID: 21031595 Review.
Mutations in the genes encoding the biosynthetic MoCo pathway enzymes abrogate the activities of all molybdoenzymes and result in the "combined" form of MoCo deficiency, which is clinically very similar to isolated sulfite oxidase deficiency, caused by mutati …
Mutations in the genes encoding the biosynthetic MoCo pathway enzymes abrogate the activities of all molybdoenzymes and result in the "combi …
Clinical approach to inherited metabolic disorders in neonates.
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A. Saudubray JM, et al. Biol Neonate. 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. Biol Neonate. 1990. PMID: 2265219 Review.
According to these three major clinical presentations and according to the proper use of few screening tests (blood gases, glucose, ammonia, lactic acid, electrolytes, acetest), we propose a method of diagnosis which groups these children into five schematical syndromes: type I M …
According to these three major clinical presentations and according to the proper use of few screening tests (blood gases, glucose, ammonia, …
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