(Q68345717)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3366132%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3366132%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency (English)

1 reference

1 January 2023

author name string

J. L. Dhondt

1

1 reference

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1 January 2023

P. Guibaud

2

1 reference

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1 January 2023

M. O. Rolland

3

1 reference

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1 January 2023

C. Dorche

4

1 reference

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1 January 2023

S. Andre

5

1 reference

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1 January 2023

G. Forzy

6

1 reference

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1 January 2023

J. M. Hayte

7

1 reference

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1 January 2023

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=3366132

1 January 2023

publication date

1 February 1988

1 reference

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full work available at URL

23 September 2019

http://link.springer.com/content/pdf/10.1007/BF00442213.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00442213/fulltext.html

1 January 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00442213

1 January 2023

1 reference

European Journal of Pediatrics

1 January 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3366132%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

147

1 reference

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23 September 2019

page(s)

153-157

1 reference

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23 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3366132%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00442213

23 September 2019

exact match

0 references

cites work

Current status of biopterin screening

1 reference

12 December 2020

Purification of 6-pyruvoyl-tetrahydropterin synthase from human liver

1 reference

12 December 2020

Letter: A new molecular defect in phenylketonuria

1 reference

12 December 2020

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.

1 reference

12 December 2020

Age effect on dopamine and serotonin metabolite levels in cerebrospinal fluid

1 reference

12 December 2020

Dihydrobiopterin biosynthesis deficiency

1 reference

12 December 2020

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

1 reference

12 December 2020

Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine

1 reference

12 December 2020

Biopterin synthesis defects: problems in diagnosis

1 reference

12 December 2020

Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey

1 reference

12 December 2020

Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment

1 reference

12 December 2020

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

1 reference

12 December 2020

Alpha1-Antitrypsin Phenotype: Transient Cathodal Shift in Serum of Infant Girl with Urinary Cytomegalovirus and Fatty Liver

8

1 reference

1 January 2023

Identifiers

DOI

10.1007/BF00442213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3366132%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference