(Q42162138)

17 October 2017

title

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients (English)

1 reference

17 October 2017

D Concolino

1

1 reference

17 October 2017

G Muzzi

2

1 reference

17 October 2017

M Rapsomaniki

3

1 reference

17 October 2017

M T Moricca

4

1 reference

17 October 2017

M G Pascale

5

1 reference

17 October 2017

P Strisciuglio

6

1 reference

17 October 2017

publication date

15 April 2008

1 reference

Journal of Inherited Metabolic Disease

17 October 2017

published in

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17 October 2017

volume

31 Suppl 2

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17 October 2017

page(s)

S193-7

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Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection

17 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Structure and expression of human dihydropteridine reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Dihydropteridine reductase deficiency in man: from biology to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Molecular basis of dihydropteridine reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0788-3

21 January 2018

DHPR deficiency in Italy

1 reference

12 December 2020

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

1 reference

12 December 2020

Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins

1 reference

12 December 2020

Genotype-phenotype correlation in dihydropteridine reductase deficiency

1 reference

12 December 2020

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

1 reference

12 December 2020

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations

1 reference

12 December 2020

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency

1 reference

12 December 2020

10.1007/S10545-007-0788-3

Identifiers

DOI

1 reference

Dimensions Publication ID

17 October 2017

1029390535

0 references

1 reference