Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1989 1
1996 1
1997 1
1999 1
2002 2
2005 2
2011 1
2012 1
2014 1
2017 1
2018 1
2019 1
2020 2
2021 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
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: a founder mutation.
Mhanni AA, Greenberg CR, Spriggs EL, Agatep R, Sisk RR, Prasad C. Mhanni AA, et al. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005900. doi: 10.1101/mcs.a005900. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335014 Free PMC article.
Both patients have a homozygous 4-bp deletion, 1347-1350delTTGT in the sulfite oxidase gene (SUOX), predicting a premature termination of the sulfite oxidase protein leading to absence of the carboxy-terminal third portion of the protein. ...
Both patients have a homozygous 4-bp deletion, 1347-1350delTTGT in the sulfite oxidase gene (SUOX), predicting a premature terminatio …
Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N. Spiegel R, et al. J Inherit Metab Dis. 2022 May;45(3):456-469. doi: 10.1002/jimd.12488. Epub 2022 Mar 3. J Inherit Metab Dis. 2022. PMID: 35192225 Free PMC article.
Delineation of MoCD natural history supports evaluations of emerging replacement therapy with cPMP for MoCD-A, which may modify disease course for affected individuals....
Delineation of MoCD natural history supports evaluations of emerging replacement therapy with cPMP for MoCD-A, which may modify disease c …
Isolated sulfite oxidase deficiency.
Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR. Rupar CA, et al. Neuropediatrics. 1996 Dec;27(6):299-304. doi: 10.1055/s-2007-973798. Neuropediatrics. 1996. PMID: 9050047
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.
Kaczmarek AT, Bahlmann N, Thaqi B, May P, Schwarz G. Kaczmarek AT, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):188-194. doi: 10.1016/j.ymgme.2021.07.011. Epub 2021 Aug 8. Mol Genet Metab. 2021. PMID: 34420858
Here we report an interdisciplinary approach utilizing exome/genome data derived from gnomAD database as well as published variants to predict the pathogenic outcome of 303 naturally occurring SO missense variants and combining these with activity determination. ...
Here we report an interdisciplinary approach utilizing exome/genome data derived from gnomAD database as well as published variants to pr …
Disorders of amino acid metabolism associated with epilepsy.
Lee WT. Lee WT. Brain Dev. 2011 Oct;33(9):745-52. doi: 10.1016/j.braindev.2011.06.014. Epub 2011 Jul 30. Brain Dev. 2011. PMID: 21803516 Review.
Therefore, the incidence of seizures in disorders of amino acid metabolism is variable. Timely diagnosis and early treatment may improve the prognosis of these disorders....
Therefore, the incidence of seizures in disorders of amino acid metabolism is variable. Timely diagnosis and early treatment may improve the …
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.
Lam CW, Li CK, Lai CK, Tong SF, Chan KY, Ng GS, Yuen YP, Cheng AW, Chan YW. Lam CW, et al. Mol Genet Metab. 2002 Jan;75(1):91-5. doi: 10.1006/mgme.2001.3267. Mol Genet Metab. 2002. PMID: 11825068
To do so, we designed oligonucleotide primers for amplification of the predicted exons and intron-exon boundaries of the SUOX gene obtained from the completed draft version of the human genome. ...
To do so, we designed oligonucleotide primers for amplification of the predicted exons and intron-exon boundaries of the SUOX gene ob …
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Tian M, Qu Y, Huang L, Su X, Li S, Ying J, Zhao F, Mu D. Tian M, et al. BMC Pediatr. 2019 Dec 23;19(1):510. doi: 10.1186/s12887-019-1889-5. BMC Pediatr. 2019. PMID: 31870341 Free PMC article. Review.
Here, we present three mild ISOD cases in one family, each with a stable clinical course and spontaneous recovery. CASE PRESENTATION: All three siblings had two novel compound heterozygous mutations in the SUOX gene (NM_000456; c.1096C > T [p.R366C] and c.1376G > A [ …
Here, we present three mild ISOD cases in one family, each with a stable clinical course and spontaneous recovery. CASE PRESENTATION: …
Sulfite oxidase deficiency in a newborn.
Westerlinck H, Meylaerts L, Van Hoestenberghe MR, Rossi A. Westerlinck H, et al. JBR-BTR. 2014 Mar-Apr;97(2):113-4. doi: 10.5334/jbr-btr.40. JBR-BTR. 2014. PMID: 25073245
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abn …
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually present …
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients.
Brown GK, Scholem RD, Croll HB, Wraith JE, McGill JJ. Brown GK, et al. Neurology. 1989 Feb;39(2 Pt 1):252-7. doi: 10.1212/wnl.39.2.252. Neurology. 1989. PMID: 2915798
In both, neurologic problems started soon after birth and progressed rapidly to profound mental retardation, microcephaly, blindness, and spastic quadriparesis. Seizures were a persistent problem throughout the course of their illness. The neurologic abnormalities were ass …
In both, neurologic problems started soon after birth and progressed rapidly to profound mental retardation, microcephaly, blindness, and sp …
18 results