(Q36433324)

14 August 2017

0 references

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy (English)

1 reference

sepiapterin reductase deficiency

14 August 2017

1 reference

0 references

author name string

Ronald Thibert

1

1 reference

14 August 2017

Keith Hyland

2

1 reference

14 August 2017

Joe Chiles

3

1 reference

14 August 2017

Steven Steinberg

4

1 reference

14 August 2017

Florian Eichler

5

1 reference

14 August 2017

16 September 2011

1 reference

Journal of Inherited Metabolic Disorders Reports

14 August 2017

1 reference

14 August 2017

3

1 reference

14 August 2017

79-82

1 reference

Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509860

Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509860

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509860

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509860

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509860

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

21 September 2018

1 reference

12 December 2020

Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2011_65

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23430877

1 reference