Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, m...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
27 February 2020
|
| In: |
Orphanet journal of rare diseases
Year: 2020, Jahrgang: 15, Pages: 1-7 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-020-1329-5 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-020-1329-5
|
| Verfasserangaben: | Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1697006787 | ||
| 003 | DE-627 | ||
| 005 | 20230427121953.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200504s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13023-020-1329-5 |2 doi | |
| 035 | |a (DE-627)1697006787 | ||
| 035 | |a (DE-599)KXP1697006787 | ||
| 035 | |a (OCoLC)1341317903 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Cannet, Claire |e VerfasserIn |0 (DE-588)1209490897 |0 (DE-627)1697010296 |4 aut | |
| 245 | 1 | 0 | |a Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls |b results of NMR metabolomics investigation |c Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz |
| 264 | 1 | |c 27 February 2020 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 04.05.2020 | ||
| 520 | |a Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor deficits, eczematous rash, autism, seizures, and developmental problems. There is a controversial discussion of whether patients with PKU have an additional risk for atherosclerosis due to interference of Phe with cholesterol synthesis and LDL-cholesterol regulation. Since cholesterol also plays a role in membrane structure and myelination, better insight into the clinical significance of the impact of Phe on lipoprotein metabolism is desirable. In 22 treated PKU patients (mean age 38.7 years) and 14 healthy controls (mean age 35.2 years), we investigated plasma with NMR spectroscopy and quantified 105 lipoprotein parameters (including lipoprotein subclasses) and 24 low molecular weight parameters. Analysis was performed on a 600 MHz Bruker AVANCE IVDr spectrometer as previously described. | ||
| 700 | 1 | |a Pilotto, Andrea |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rocha, Júlio César |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schäfer, Hartmut |e VerfasserIn |4 aut | |
| 700 | 1 | |a Spraul, Manfred |e VerfasserIn |4 aut | |
| 700 | 1 | |a Berg, Daniela |e VerfasserIn |4 aut | |
| 700 | 1 | |a Nawroth, Peter Paul |d 1954- |e VerfasserIn |0 (DE-588)1020504897 |0 (DE-627)69123941X |0 (DE-576)360517692 |4 aut | |
| 700 | 1 | |a Kasperk, Christian |d 1959- |e VerfasserIn |0 (DE-588)1032499796 |0 (DE-627)738500615 |0 (DE-576)324873050 |4 aut | |
| 700 | 1 | |a Gramer, Gwendolyn |d 1979- |e VerfasserIn |0 (DE-588)132278626 |0 (DE-627)520401697 |0 (DE-576)299048179 |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e VerfasserIn |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 700 | 1 | |a Piel, David |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Freisinger, Peter |e VerfasserIn |4 aut | |
| 700 | 1 | |a Trefz, Friedrich K. |d 1945- |e VerfasserIn |0 (DE-588)130846341 |0 (DE-627)506362019 |0 (DE-576)298373289 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Orphanet journal of rare diseases |d London : BioMed Central, 2006 |g 15(2020), Artikel-ID 61, Seite 1-7 |h Online-Ressource |w (DE-627)50900637X |w (DE-600)2225857-7 |w (DE-576)260614424 |x 1750-1172 |7 nnas |a Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls results of NMR metabolomics investigation |
| 773 | 1 | 8 | |g volume:15 |g year:2020 |g elocationid:61 |g pages:1-7 |g extent:7 |a Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls results of NMR metabolomics investigation |
| 856 | 4 | 0 | |u https://doi.org/10.1186/s13023-020-1329-5 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200504 | ||
| 993 | |a Article | ||
| 994 | |a 2020 | ||
| 998 | |g 130846341 |a Trefz, Friedrich K. |m 130846341:Trefz, Friedrich K. |d 50000 |e 50000PT130846341 |k 0/50000/ |p 15 |y j | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 13 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |e 910000PK1022937758 |e 910500PK1022937758 |k 0/910000/ |k 1/910000/910500/ |p 12 | ||
| 998 | |g 1038104505 |a Haas, Dorothea |m 1038104505:Haas, Dorothea |d 910000 |d 910500 |e 910000PH1038104505 |e 910500PH1038104505 |k 0/910000/ |k 1/910000/910500/ |p 10 | ||
| 998 | |g 132278626 |a Gramer, Gwendolyn |m 132278626:Gramer, Gwendolyn |d 910000 |d 910500 |e 910000PG132278626 |e 910500PG132278626 |k 0/910000/ |k 1/910000/910500/ |p 9 | ||
| 998 | |g 1032499796 |a Kasperk, Christian |m 1032499796:Kasperk, Christian |d 910000 |d 910100 |e 910000PK1032499796 |e 910100PK1032499796 |k 0/910000/ |k 1/910000/910100/ |p 8 | ||
| 998 | |g 1020504897 |a Nawroth, Peter Paul |m 1020504897:Nawroth, Peter Paul |d 910000 |d 910100 |e 910000PN1020504897 |e 910100PN1020504897 |k 0/910000/ |k 1/910000/910100/ |p 7 | ||
| 998 | |g 1209490897 |a Cannet, Claire |m 1209490897:Cannet, Claire |d 50000 |e 50000PC1209490897 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1697006787 |e 3656733317 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz"]},"recId":"1697006787","id":{"eki":["1697006787"],"doi":["10.1186/s13023-020-1329-5"]},"origin":[{"dateIssuedDisp":"27 February 2020","dateIssuedKey":"2020"}],"language":["eng"],"physDesc":[{"extent":"7 S."}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"person":[{"family":"Cannet","given":"Claire","role":"aut","display":"Cannet, Claire"},{"display":"Pilotto, Andrea","given":"Andrea","role":"aut","family":"Pilotto"},{"given":"Júlio César","role":"aut","family":"Rocha","display":"Rocha, Júlio César"},{"display":"Schäfer, Hartmut","given":"Hartmut","role":"aut","family":"Schäfer"},{"display":"Spraul, Manfred","family":"Spraul","role":"aut","given":"Manfred"},{"display":"Berg, Daniela","family":"Berg","role":"aut","given":"Daniela"},{"family":"Nawroth","role":"aut","given":"Peter Paul","display":"Nawroth, Peter Paul"},{"role":"aut","given":"Christian","family":"Kasperk","display":"Kasperk, Christian"},{"display":"Gramer, Gwendolyn","family":"Gramer","given":"Gwendolyn","role":"aut"},{"display":"Haas, Dorothea","role":"aut","given":"Dorothea","family":"Haas"},{"display":"Piel, David","family":"Piel","role":"aut","given":"David"},{"display":"Kölker, Stefan","role":"aut","given":"Stefan","family":"Kölker"},{"display":"Hoffmann, Georg F.","role":"aut","given":"Georg F.","family":"Hoffmann"},{"role":"aut","given":"Peter","family":"Freisinger","display":"Freisinger, Peter"},{"role":"aut","given":"Friedrich K.","family":"Trefz","display":"Trefz, Friedrich K."}],"title":[{"title_sort":"Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls","title":"Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls","subtitle":"results of NMR metabolomics investigation"}],"relHost":[{"title":[{"title_sort":"Orphanet journal of rare diseases","subtitle":"OJRD","title":"Orphanet journal of rare diseases"}],"note":["Gesehen am 01.09.10"],"type":{"bibl":"periodical","media":"Online-Ressource"},"language":["eng"],"pubHistory":["1.2006 -"],"physDesc":[{"extent":"Online-Ressource"}],"origin":[{"dateIssuedDisp":"2006-","publisher":"BioMed Central","dateIssuedKey":"2006","publisherPlace":"London"}],"id":{"eki":["50900637X"],"issn":["1750-1172"],"zdb":["2225857-7"]},"part":{"text":"15(2020), Artikel-ID 61, Seite 1-7","extent":"7","volume":"15","pages":"1-7","year":"2020"},"recId":"50900637X","disp":"Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls results of NMR metabolomics investigationOrphanet journal of rare diseases"}],"note":["Gesehen am 04.05.2020"]} | ||
| SRT | |a CANNETCLAILOWERPLASM2720 | ||