Etiology
Couce ML,
Sánchez-Pintos P,
Vitoria I,
De Castro MJ,
Aldámiz-Echevarría L,
Correcher P,
Fernández-Marmiesse A,
Roca I,
Hermida A,
Martínez-Olmos M,
Leis R
Orphanet J Rare Dis
2018 Jun 27;13(1):103.
doi: 10.1186/s13023-018-0847-x.
PMID: 29945661Free PMC Article
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
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PMID: 21555948
Campistol J,
Gassió R,
Artuch R,
Vilaseca MA;
PKU Follow-up Unit
Dev Med Child Neurol
2011 May;53(5):405-8.
Epub 2011 Mar 21
doi: 10.1111/j.1469-8749.2010.03869.x.
PMID: 21418193
Hanley WB
Eur J Obstet Gynecol Reprod Biol
2008 Apr;137(2):131-5.
Epub 2008 Feb 8
doi: 10.1016/j.ejogrb.2007.12.011.
PMID: 18262326
Hanley WB,
Lee AW,
Hanley AJ,
Lehotay DC,
Austin VJ,
Schoonheyt WE,
Platt BA,
Clarke JT
Mol Genet Metab
2000 Apr;69(4):286-94.
doi: 10.1006/mgme.2000.2985.
PMID: 10870846
Diagnosis
Deng IB,
Follett J,
Bu M,
Farrer MJ
Mov Disord
2024 Feb;39(2):249-258.
Epub 2023 Nov 28
doi: 10.1002/mds.29677.
PMID: 38014588
Thoalnoon OA,
Kareem AA,
Hammoodi HZ
Arch Razi Inst
2023 Apr;78(2):667-673.
Epub 2023 Apr 30
doi: 10.22092/ARI.2022.359480.2431.
PMID: 37396747Free PMC Article
Couce ML,
Sánchez-Pintos P,
Vitoria I,
De Castro MJ,
Aldámiz-Echevarría L,
Correcher P,
Fernández-Marmiesse A,
Roca I,
Hermida A,
Martínez-Olmos M,
Leis R
Orphanet J Rare Dis
2018 Jun 27;13(1):103.
doi: 10.1186/s13023-018-0847-x.
PMID: 29945661Free PMC Article
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Hanley WB
Eur J Obstet Gynecol Reprod Biol
2008 Apr;137(2):131-5.
Epub 2008 Feb 8
doi: 10.1016/j.ejogrb.2007.12.011.
PMID: 18262326
Therapy
Thoalnoon OA,
Kareem AA,
Hammoodi HZ
Arch Razi Inst
2023 Apr;78(2):667-673.
Epub 2023 Apr 30
doi: 10.22092/ARI.2022.359480.2431.
PMID: 37396747Free PMC Article
Li H,
Yang H,
Li M,
Liang L,
Zhu H,
Chen A,
Qian H
BMC Neurol
2022 Nov 4;22(1):409.
doi: 10.1186/s12883-022-02946-1.
PMID: 36333673Free PMC Article
Rajabi F,
Rohr F,
Wessel A,
Martell L,
Dobrowolski SF,
Guldberg P,
Güttler F,
Levy HL
Mol Genet Metab
2019 Dec;128(4):415-421.
Epub 2019 Sep 14
doi: 10.1016/j.ymgme.2019.09.004.
PMID: 31623983
Verduci E,
Moretti F,
Bassanini G,
Banderali G,
Rovelli V,
Casiraghi MC,
Morace G,
Borgo F,
Borghi E
Nutr Metab Cardiovasc Dis
2018 Apr;28(4):385-392.
Epub 2018 Jan 31
doi: 10.1016/j.numecd.2018.01.004.
PMID: 29502926
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Prognosis
Fang Y,
Gao J,
Guo Y,
Li X,
Yuan E,
Yuan E,
Song L,
Shi Q,
Yu H,
Zhao D,
Zhang L
Hum Genomics
2023 Mar 31;17(1):34.
doi: 10.1186/s40246-023-00481-9.
PMID: 37004080Free PMC Article
Zhou J,
Zeng Y,
Qiu X,
Lin Q,
Chen W,
Luo J,
Xu L
Mol Biol Rep
2022 Nov;49(11):10409-10419.
Epub 2022 Sep 14
doi: 10.1007/s11033-022-07579-8.
PMID: 36104584Free PMC Article
Hillert A,
Anikster Y,
Belanger-Quintana A,
Burlina A,
Burton BK,
Carducci C,
Chiesa AE,
Christodoulou J,
Đorđević M,
Desviat LR,
Eliyahu A,
Evers RAF,
Fajkusova L,
Feillet F,
Bonfim-Freitas PE,
Giżewska M,
Gundorova P,
Karall D,
Kneller K,
Kutsev SI,
Leuzzi V,
Levy HL,
Lichter-Konecki U,
Muntau AC,
Namour F,
Oltarzewski M,
Paras A,
Perez B,
Polak E,
Polyakov AV,
Porta F,
Rohrbach M,
Scholl-Bürgi S,
Spécola N,
Stojiljković M,
Shen N,
Santana-da Silva LC,
Skouma A,
van Spronsen F,
Stoppioni V,
Thöny B,
Trefz FK,
Vockley J,
Yu Y,
Zschocke J,
Hoffmann GF,
Garbade SF,
Blau N
Am J Hum Genet
2020 Aug 6;107(2):234-250.
Epub 2020 Jul 14
doi: 10.1016/j.ajhg.2020.06.006.
PMID: 32668217Free PMC Article
Caletti MT,
Bettocchi I,
Baronio F,
Brodosi L,
Cataldi S,
Petroni ML,
Cassio A,
Marchesini G
Nutr Metab Cardiovasc Dis
2020 Jun 9;30(6):977-983.
Epub 2020 Feb 20
doi: 10.1016/j.numecd.2020.02.003.
PMID: 32409273
Rajabi F,
Rohr F,
Wessel A,
Martell L,
Dobrowolski SF,
Guldberg P,
Güttler F,
Levy HL
Mol Genet Metab
2019 Dec;128(4):415-421.
Epub 2019 Sep 14
doi: 10.1016/j.ymgme.2019.09.004.
PMID: 31623983
Clinical prediction guides
Hillert A,
Anikster Y,
Belanger-Quintana A,
Burlina A,
Burton BK,
Carducci C,
Chiesa AE,
Christodoulou J,
Đorđević M,
Desviat LR,
Eliyahu A,
Evers RAF,
Fajkusova L,
Feillet F,
Bonfim-Freitas PE,
Giżewska M,
Gundorova P,
Karall D,
Kneller K,
Kutsev SI,
Leuzzi V,
Levy HL,
Lichter-Konecki U,
Muntau AC,
Namour F,
Oltarzewski M,
Paras A,
Perez B,
Polak E,
Polyakov AV,
Porta F,
Rohrbach M,
Scholl-Bürgi S,
Spécola N,
Stojiljković M,
Shen N,
Santana-da Silva LC,
Skouma A,
van Spronsen F,
Stoppioni V,
Thöny B,
Trefz FK,
Vockley J,
Yu Y,
Zschocke J,
Hoffmann GF,
Garbade SF,
Blau N
Am J Hum Genet
2020 Aug 6;107(2):234-250.
Epub 2020 Jul 14
doi: 10.1016/j.ajhg.2020.06.006.
PMID: 32668217Free PMC Article
Zengin Akkus P,
Bilginer Gurbuz B,
Ciki K,
Ilter Bahadur E,
Karahan S,
Ozmert EN,
Coskun T,
Sivri S
J Dev Behav Pediatr
2020 Apr;41(3):195-202.
doi: 10.1097/DBP.0000000000000748.
PMID: 31688717
Couce ML,
Sánchez-Pintos P,
Vitoria I,
De Castro MJ,
Aldámiz-Echevarría L,
Correcher P,
Fernández-Marmiesse A,
Roca I,
Hermida A,
Martínez-Olmos M,
Leis R
Orphanet J Rare Dis
2018 Jun 27;13(1):103.
doi: 10.1186/s13023-018-0847-x.
PMID: 29945661Free PMC Article
Verduci E,
Moretti F,
Bassanini G,
Banderali G,
Rovelli V,
Casiraghi MC,
Morace G,
Borgo F,
Borghi E
Nutr Metab Cardiovasc Dis
2018 Apr;28(4):385-392.
Epub 2018 Jan 31
doi: 10.1016/j.numecd.2018.01.004.
PMID: 29502926
Campistol J,
Gassió R,
Artuch R,
Vilaseca MA;
PKU Follow-up Unit
Dev Med Child Neurol
2011 May;53(5):405-8.
Epub 2011 Mar 21
doi: 10.1111/j.1469-8749.2010.03869.x.
PMID: 21418193