(Q28253530)

isolated sulfite oxidase deficiency

27 March 2017

main subject

1 reference

Chen Hoffmann

1

0 references

Bruria Ben-Zeev

2

0 references

Yair Anikster

3

0 references

Andreea Nissenkorn

4

0 references

Natan Brand

5

0 references

Jacob Kuint

6

0 references

Tammar Kushnir

7

0 references

C. Hoffmann

1

1 reference

27 March 2017

B. Ben-Zeev

2

1 reference

27 March 2017

Y. Anikster

3

1 reference

27 March 2017

A. Nissenkorn

4

1 reference

27 March 2017

N. Brand

5

1 reference

27 March 2017

J. Kuint

6

1 reference

27 March 2017

T. Kushnir

7

1 reference

27 March 2017

language of work or name

English

0 references

publication date

October 2007

0 references

1 October 2007

1 reference

Journal of Child Neurology

27 March 2017

published in

1 reference

27 March 2017

volume

22

1 reference

27 March 2017

issue

10

1 reference

27 March 2017

page(s)

1214-21

0 references

1214-1221

1 reference

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

27 March 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Congenital ectopia lentis. A Danish national survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Isolated sulfite oxidase deficiency: review of two cases in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

A mechanism of sulfite neurotoxicity: direct inhibition of glutamate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Disorders of glutamate metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Development of the human brain: in vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Magnetic resonance spectroscopy of the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Magnetic resonance imaging in perinatal brain injury: clinical presentation, lesions and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Early diffusion-weighted MRI and 1H-Magnetic Resonance Spectroscopy in asphyxiated full-term neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Term neonate prognoses after perinatal asphyxia: contributions of MR imaging, MR spectroscopy, relaxation times, and apparent diffusion coefficients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Early increases in brain myo-inositol measured by proton magnetic resonance spectroscopy in term infants with neonatal encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Elevation of myoinositol is associated with disease containment in progressive multifocal leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807306260

21 January 2018

Identifiers

DOI

10.1177/0883073807306260

1 reference