(Q39204406)

reason for preferred rank

10 September 2017

title

Hyperphenylalaniaemia due to dihydropteridine reductase deficiency (English)

1 reference

25 October 2022

Hyperphenylalaninaemia due to dihydropteridine reductase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A28230

25 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A28230

25 October 2022

author name string

H. Gröbe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A28230

25 October 2022

K. Bartholome

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A28230

25 October 2022

S. Milstien

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A28230

25 October 2022

S. Kaufman

4

1 reference

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25 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=28230

25 October 2022

publication date

1 September 1978

1 reference

10 September 2017

8 September 1978

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=28230

full work available at URL

25 October 2022

http://link.springer.com/content/pdf/10.1007/BF00442368.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00442368/fulltext.html

25 October 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00442368

25 October 2022

1 reference

European Journal of Pediatrics

25 October 2022

published in

1 reference

10 September 2017

volume

129

1 reference

10 September 2017

issue

2

1 reference

10 September 2017

page(s)

93-98

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00442368

10 September 2017

exact match

0 references

cites work

Letter: A new molecular defect in phenylketonuria

1 reference

12 December 2020

Atypical phenylketonuria with normal dihydropteridine reductase activity

1 reference

12 December 2020

The analysis of indolic tryptophan metabolites in human urine. Thin-layer chromatography and in situ quantitation

1 reference

12 December 2020

Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity

1 reference

12 December 2020

Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase

1 reference

12 December 2020

The phenylalanine hydroxylating system from mammalian liver

1 reference

12 December 2020

Letter: Variant forms of phenylketonuria

1 reference

12 December 2020

Partial purification and characterization of tryptophan hydroxylase from rabbit hindbrain

1 reference

12 December 2020

New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction

1 reference

12 December 2020

Phenylketonuria due to a deficiency of dihydropteridine reductase

1 reference

12 December 2020

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

1 reference

12 December 2020

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells

1 reference

12 December 2020

Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro

1 reference

12 December 2020

Letter: Biopterin derivatives in atypical phenylketonuria

1 reference

12 December 2020

Solubilization and partial purification of tyrosine hydroxylase from bovine adrenal medulla

1 reference

12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1 reference

12 December 2020

Therapy of intention myoclonus with L-5-hydroxytryptophan and a peripheral decarboxylase inhibitor, MK 486

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442368

1 reference

10 September 2017

1 reference