Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated
Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a...
Gespeichert in:
| Hauptverfasser: | , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
May 2025
|
| In: |
Molecular genetics and metabolism reports
Year: 2025, Jahrgang: 145, Heft: 1, Pages: 1-12 |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgme.2025.109084 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.ymgme.2025.109084 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719225000757 
|
| Verfasserangaben: | Dakota J. S. J. Peacock, Carlos R. Ferreira, Gabriella Horvath, Georg F. Hoffmann, Nenad Blau, Darius Ebrahimi-Fakhari |
MARC
| LEADER | 00000naa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 194031397X | ||
| 003 | DE-627 | ||
| 005 | 20251105103454.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 251105s2025 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ymgme.2025.109084 |2 doi | |
| 035 | |a (DE-627)194031397X | ||
| 035 | |a (DE-599)KXP194031397X | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Peacock, Dakota |e VerfasserIn |0 (DE-588)1380796253 |0 (DE-627)1940315166 |4 aut | |
| 245 | 1 | 0 | |a Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated |c Dakota J. S. J. Peacock, Carlos R. Ferreira, Gabriella Horvath, Georg F. Hoffmann, Nenad Blau, Darius Ebrahimi-Fakhari |
| 264 | 1 | |c May 2025 | |
| 300 | |a 12 | ||
| 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 05.11.2025 | ||
| 520 | |a Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a total of 559 IMDs. We outlined the more common and treatable causes, sorted by the dominant movement disorder phenomenology, and provided a practical clinical approach for suspected IMDs presenting with movement disorders. This work represents an updated catalog in a series of articles aimed at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses based on system involvement. | ||
| 650 | 4 | |a ataxia | |
| 650 | 4 | |a Dystonia | |
| 650 | 4 | |a Inborn errors of metabolism | |
| 650 | 4 | |a Movement disorders | |
| 650 | 4 | |a Myoclonus | |
| 650 | 4 | |a Parkinsonism | |
| 700 | 1 | |a Ferreira, Carlos R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Horvath, Gabriella |e VerfasserIn |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 Blau, Nenad |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ebrahimi-Fakhari, Darius |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular genetics and metabolism reports |d Amsterdam [u.a.] : Elsevier, 2014 |g Volume 145 (issue 1, May 2025), 109084, Seite [1]-12 |h Online-Ressource |w (DE-627)826105033 |w (DE-600)2821908-9 |w (DE-576)433071052 |x 2214-4269 |7 nnas |a Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated |
| 773 | 1 | 8 | |g volume:145 |g year:2025 |g number:1 |g month:05 |g elocationid:109084 |g pages:1-12 |g extent:12 |a Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ymgme.2025.109084 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1096719225000757 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20251105 | ||
| 993 | |a Article | ||
| 994 | |a 2025 | ||
| 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 4 | ||
| 999 | |a KXP-PPN194031397X |e 4796957863 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"title":[{"title_sort":"Molecular genetics and metabolism reports","title":"Molecular genetics and metabolism reports"}],"language":["eng"],"pubHistory":["1.2014 -"],"note":["Gesehen am 25.06.20"],"titleAlt":[{"title":"MGM reports"}],"id":{"issn":["2214-4269"],"zdb":["2821908-9"],"eki":["826105033"]},"origin":[{"dateIssuedKey":"2014","publisherPlace":"Amsterdam [u.a.]","dateIssuedDisp":"2014-","publisher":"Elsevier"}],"part":{"pages":"1-12","volume":"145","year":"2025","text":"Volume 145 (issue 1, May 2025), 109084, Seite [1]-12","issue":"1","extent":"12"},"disp":"Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updatedMolecular genetics and metabolism reports","type":{"media":"Online-Ressource","bibl":"periodical"},"physDesc":[{"extent":"Online-Ressource"}],"recId":"826105033"}],"id":{"eki":["194031397X"],"doi":["10.1016/j.ymgme.2025.109084"]},"note":["Gesehen am 05.11.2025"],"language":["eng"],"title":[{"title_sort":"Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated","title":"Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated"}],"name":{"displayForm":["Dakota J. S. J. Peacock, Carlos R. Ferreira, Gabriella Horvath, Georg F. Hoffmann, Nenad Blau, Darius Ebrahimi-Fakhari"]},"physDesc":[{"extent":"12 S."}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"194031397X","person":[{"given":"Dakota","display":"Peacock, Dakota","family":"Peacock","role":"aut"},{"display":"Ferreira, Carlos R.","given":"Carlos R.","role":"aut","family":"Ferreira"},{"given":"Gabriella","display":"Horvath, Gabriella","family":"Horvath","role":"aut"},{"family":"Hoffmann","role":"aut","given":"Georg F.","display":"Hoffmann, Georg F."},{"family":"Blau","role":"aut","given":"Nenad","display":"Blau, Nenad"},{"family":"Ebrahimi-Fakhari","role":"aut","given":"Darius","display":"Ebrahimi-Fakhari, Darius"}],"origin":[{"dateIssuedDisp":"May 2025","dateIssuedKey":"2025"}]} | ||
| SRT | |a PEACOCKDAKCLINICALAN2025 | ||