(Q24563321)

2

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A Rupp

3

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E Mayatepek

4

0 references

D Rating

5

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C Boesch

6

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H J Bremer

Journal of Clinical Investigation

7

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language of work or name

English

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publication date

April 1999

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published in

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volume

103

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issue

8

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page(s)

1169-78

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cites work

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Kinetic analysis of blood-brain barrier transport of amino acids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Abnormal amino acid metabolism and brain protein synthesis during neural development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Valine, isoleucine, and leucine. A new treatment for phenylketonuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Neuropsychology of early-treated phenylketonuria: specific executive function deficits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Versatile frequency domain fitting using time domain models and prior knowledge.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

The effects of chronic hyperphenylalaninaemia on mouse brain protein synthesis can be prevented by other amino acids

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Kinetic constants for blood-brain barrier amino acid transport in conscious rats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Amino acid depletion in the blood and brain tissue of hyperphenylalaninemic rats is abolished by the administration of additional lysine: a contribution to the understanding of the metabolic defects in phenylketonuria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Phenylalanine alters the mean power frequency of electroencephalograms and plasma L-dopa in treated patients with phenylketonuria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Kinetics of neutral amino acid transport across the blood-brain barrier

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Asymmetrical transport of amino acids across the blood-brain barrier in humans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Kinetics of phenylalanine transport at the human blood-brain barrier investigated in vivo

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Psychiatric disorders in adult patients with early-treated phenylketonuria

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

EEGs in phenylketonuria. I: Follow-up to adulthood; II: Short-term diet-related changes in EEGs and cognitive function.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

[Treatment of phenylketonuria: wish and reality]

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Early-treated phenylketonuria: adult neuropsychologic outcome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Inhibition by L-phenylalanine of tryptophan transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

Neutral amino acid transport at the human blood-brain barrier

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408272

In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy

28 November 2018

1 reference

12 December 2020

Identification and quantitation of phenylalanine in the brain of patients with phenylketonuria by means of localized in vivo 1H magnetic-resonance spectroscopy

1 reference

12 December 2020

Inhibition of neutral amino acid transport across the human blood-brain barrier by phenylalanine

1 reference

12 December 2020

Nutritional value of essential amino acids in the treatment of adults with phenylketonuria

1 reference

12 December 2020

Utilisation of amino acid mixtures in adolescents with phenylketonuria

1 reference

12 December 2020

Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria

1 reference

12 December 2020

Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria

1 reference

12 December 2020

The dynamics of brain concentrations of phenylalanine and its clinical significance in patients with phenylketonuria determined by in vivo 1H magnetic resonance spectroscopy

1 reference

12 December 2020

Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria

1 reference

12 December 2020

Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine

1 reference

12 December 2020

1H NMR studies of glucose transport in the human brain

1 reference

12 December 2020

Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria

1 reference

12 December 2020

Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia

1 reference

12 December 2020

release_jky6oj2kmrgufhdeywmac5z3le

Identifiers

DOI

10.1172/JCI5017

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jky6oj2kmrgufhdeywmac5z3le

24 November 2022