Can untreated PKU patients escape from intellectual disability? A systematic review (Q58695139)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

1 reference

0 references

Can untreated PKU patients escape from intellectual disability? A systematic review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

main subject

intellectual disability

1 reference

24 March 2019

1 reference

24 March 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Maria Giżewska

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Katrin Ounap

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Francjan J van Spronsen

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

5

Nenad Blau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

19

Vincenzo Leuzzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Miroslaw Bik-Multanowski

4

object named as

Miroslaw Bik-Multanowski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Francesca Nardecchia

23

0 references

Kirsten K Ahring

object named as

Kirsten Ahring

3

0 references

Gwendolyn Gramer

object named as

Gwendolyn Gramer

13

0 references

author name string

Danique van Vliet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Annemiek M J van Wegberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Kari Casas

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Bozena Didycz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Maja Djordjevic

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Antonio Federico

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

François Feillet

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Jozef L Hertecant

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Carla E M Hollak

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Jens V Jørgensen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Daniela Karall

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Yuval Landau

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Per Mathisen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Kathryn Moseley

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Neslihan Ö Mungan

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Kimberly K Powell

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Radha Ramachandran

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Frank Rutsch

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Aria Setoodeh

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Maja Stojiljkovic

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Fritz K Trefz

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Natalia Usurelu

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Callum Wilson

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

Clara D van Karnebeek

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

William B Hanley

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

language of work or name

English

0 references

publication date

29 August 2018

2 references

24 March 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

20 April 2020

published in

2 references

24 March 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

page(s)

149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

20 April 2020

copyright license

1 reference

on focus list of Wikimedia project

24 March 2019

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-018-0890-7

0 references

cites work

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Current status of newborn screening worldwide: 2015.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Adults with untreated phenylketonuria: out of sight, out of mind

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Finding the fertile woman with phenylketonuria

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Behaviour in early treated phenylketonuria: a systematic review

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Phenylketonuria with normal intelligence.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Neurological deterioration in young adults with phenylketonuria

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6116368

Another population of phenylketonuria? Studies on atypical phenylketonurics

30 November 2018

1 reference

12 December 2020

Phenylketonuria with normal IQ

1 reference

12 December 2020

Atypical Phenylketonuria With Borderline or Normal Intelligence

1 reference

12 December 2020

Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients

1 reference

12 December 2020

Influence of phenylalanine intake on phenylketonuria

1 reference

12 December 2020

Phenylketonuria; two unusual cases

1 reference

12 December 2020

Phenylketonuria with normal intelligence

1 reference

12 December 2020

ABOVE AVERAGE INTELLIGENCE IN UNTREATED PHENYLKETONURIA

1 reference

12 December 2020

UNEXPECTED FINDING FROM A PKU NEWBORN SCREENING PROGRAM

1 reference

12 December 2020

An evaluation of the treatment of phenylketonuria with diets low in phenylalanine

1 reference

12 December 2020

1 reference

12 December 2020

10.1186/S13023-018-0890-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 April 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13023-018-0890-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30157945%20AND%20SRC:MED&resulttype=core&format=json

20 April 2020

1 reference