(Q60748685)

2

0 references

Rocío Sánchez-Alcudia

3

0 references

Margarita Castro

4

0 references

Celia Medrano

5

0 references

Luis Gutiérrez-Solana

6

0 references

Susana Roldán

7

0 references

Aida Ormazábal

8

0 references

Celia Pérez-Cerdá

9

0 references

Begoña Merinero

10

0 references

Belén Pérez

11

0 references

Rafael Artuch

12

0 references

Magdalena Ugarte

13

0 references

Lourdes R. Desviat

14

0 references

Lourdes R Desviat

https://scigraph.springernature.com/pub.10.1007/s10048-011-0279-4

14

0 references

language of work or name

English

0 references

publication date

24 March 2011

0 references

August 2011

0 references

published in

Neurogenetics

0 references

volume

12

0 references

issue

3

0 references

page(s)

183-191

0 references

183-91

0 references

exact match

0 references

cites work

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 reference

12 December 2020

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

1 reference

12 December 2020

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

1 reference

12 December 2020

Sleep and rhythm consequences of a genetically induced loss of serotonin.

1 reference

12 December 2020

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.

1 reference

12 December 2020

Analysis of reduced forms of biopterin in biological tissues and fluids

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

12 December 2020

Cerebral folate deficiency

1 reference

12 December 2020

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

1 reference

12 December 2020

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

12 December 2020

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

1 reference

12 December 2020

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

12 December 2020

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

1 reference

12 December 2020

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

1 reference

12 December 2020

The 1.25 A crystal structure of sepiapterin reductase reveals its binding mode to pterins and brain neurotransmitters

1 reference

12 December 2020

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

1 reference

12 December 2020

Determination and assessment of the stability of phenylalanine and tyrosine in blood spots by HPLC.

1 reference

12 December 2020

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

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

Functionally important residues tyrosine-171 and serine-158 in sepiapterin reductase

1 reference

12 December 2020

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

1 reference

12 December 2020

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

1 reference

12 December 2020

Two Greek siblings with sepiapterin reductase deficiency.

1 reference

12 December 2020

High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling.

1 reference

12 December 2020