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000140655 0247_ $$2doi$$a10.1002/jimd.12049
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000140655 037__ $$aDZNE-2020-06977
000140655 041__ $$aEnglish
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000140655 1001_ $$0P:(DE-HGF)0$$aPilotto, Andrea$$b0$$eCorresponding author
000140655 245__ $$aCerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
000140655 260__ $$aDordrecht [u.a.]$$bSpringer Science + Business Media B.V$$c2019
000140655 264_1 $$2Crossref$$3online$$bWiley$$c2019-02-01
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000140655 520__ $$aBiogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood-brain barrier. Dopamine and serotonin deficits might explain brain damage and progressive neuropsychiatric impairment in adult PKU patients. Ten early treated adult PKU patients (mean age 38.2 years) and 15 age-matched controls entered the study. Plasma and cerebrospinal fluid (CSF) Phe, 5-hydroxyindoleacetic acid (5-HIAA), 5-hydroxytryptophan (5-HTP), 3,4-dihydroxy-l-phenylalanine (l-DOPA) and homovanillic acid (HVA) were analyzed. Voxel-based morphometry statistical nonparametric mapping was used to test the age-corrected correlation between gray matter atrophy and CSF biogenic amines levels. 5-HIAA and 5-HTP were significantly reduced in PKU patients compared to controls. Significant negative correlations were found between CSF 5-HIAA, HVA, and 5-HTP and Phe levels. A decrease in 5-HIAA and 5-HTP concentrations correlated with precuneus and frontal atrophy, respectively. Lower HVA levels correlated with occipital atrophy. Biogenic amines deficits correlate with specific brain atrophy patterns in adult PKU patients, in line with serotonin and dopamine projections. These findings may support a more rigorous Phe control in adult PKU to prevent neurotransmitter depletion and accelerated brain damage due to aging.
000140655 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
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000140655 650_2 $$2MeSH$$aAdult
000140655 650_2 $$2MeSH$$aAtrophy
000140655 650_2 $$2MeSH$$aBiogenic Amines: blood
000140655 650_2 $$2MeSH$$aBiogenic Amines: cerebrospinal fluid
000140655 650_2 $$2MeSH$$aCase-Control Studies
000140655 650_2 $$2MeSH$$aFemale
000140655 650_2 $$2MeSH$$aGray Matter: pathology
000140655 650_2 $$2MeSH$$aHomovanillic Acid: blood
000140655 650_2 $$2MeSH$$aHomovanillic Acid: cerebrospinal fluid
000140655 650_2 $$2MeSH$$aHumans
000140655 650_2 $$2MeSH$$aLinear Models
000140655 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000140655 650_2 $$2MeSH$$aMale
000140655 650_2 $$2MeSH$$aMiddle Aged
000140655 650_2 $$2MeSH$$aPhenylketonurias: blood
000140655 650_2 $$2MeSH$$aPhenylketonurias: cerebrospinal fluid
000140655 7001_ $$aBlau, Nenad$$b1
000140655 7001_ $$aLeks, Edytha$$b2
000140655 7001_ $$0P:(DE-2719)9000366$$aSchulte, Claudia$$b3$$udzne
000140655 7001_ $$0P:(DE-2719)2812432$$aDeuschle, Christian$$b4$$udzne
000140655 7001_ $$aZipser, Carl$$b5
000140655 7001_ $$aPiel, David$$b6
000140655 7001_ $$aFreisinger, Peter$$b7
000140655 7001_ $$aGramer, Gwendolyn$$b8
000140655 7001_ $$aKölker, Stefan$$b9
000140655 7001_ $$aHaas, Dorothea$$b10
000140655 7001_ $$aBurgard, Peter$$b11
000140655 7001_ $$aNawroth, Peter$$b12
000140655 7001_ $$aGeorg, Hoffmann$$b13
000140655 7001_ $$aScheffler, Klaus$$b14
000140655 7001_ $$0P:(DE-2719)2000059$$aBerg, Daniela$$b15$$udzne
000140655 7001_ $$aTrefz, Friedrich$$b16
000140655 77318 $$2Crossref$$3journal-article$$a10.1002/jimd.12049$$b : Wiley, 2019-02-01$$n3$$p398-406$$tJournal of Inherited Metabolic Disease$$v42$$x0141-8955$$y2019
000140655 773__ $$0PERI:(DE-600)2006875-X$$a10.1002/jimd.12049$$gVol. 42, no. 3, p. 398 - 406$$n3$$p398-406$$q42:3<398 - 406$$tJournal of inherited metabolic disease$$v42$$x0141-8955$$y2019
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000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0140-6736(10)60961-0$$o10.1016/S0140-6736(10)60961-0
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.jpeds.2013.12.015$$o10.1016/j.jpeds.2013.12.015
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1023/A:1005694122277$$o10.1023/A:1005694122277
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.ymgme.2016.02.004$$o10.1016/j.ymgme.2016.02.004
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.spen.2016.11.007$$o10.1016/j.spen.2016.11.007
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00431-014-2458-4$$o10.1007/s00431-014-2458-4
000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-005-0860-6$$o10.1007/s00415-005-0860-6
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000140655 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S2213-8587(16)30320-5$$o10.1016/S2213-8587(16)30320-5
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