Etiology
Jeannesson-Thivisol E,
Feillet F,
Chéry C,
Perrin P,
Battaglia-Hsu SF,
Herbeth B,
Cano A,
Barth M,
Fouilhoux A,
Mention K,
Labarthe F,
Arnoux JB,
Maillot F,
Lenaerts C,
Dumesnil C,
Wagner K,
Terral D,
Broué P,
de Parscau L,
Gay C,
Kuster A,
Bédu A,
Besson G,
Lamireau D,
Odent S,
Masurel A,
Guéant JL,
Namour F
Orphanet J Rare Dis
2015 Dec 15;10:158.
doi: 10.1186/s13023-015-0375-x.
PMID: 26666653Free PMC Article
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
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
Burnett JR
IDrugs
2007 Nov;10(11):805-13.
PMID: 17968763
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
Jeannesson-Thivisol E,
Feillet F,
Chéry C,
Perrin P,
Battaglia-Hsu SF,
Herbeth B,
Cano A,
Barth M,
Fouilhoux A,
Mention K,
Labarthe F,
Arnoux JB,
Maillot F,
Lenaerts C,
Dumesnil C,
Wagner K,
Terral D,
Broué P,
de Parscau L,
Gay C,
Kuster A,
Bédu A,
Besson G,
Lamireau D,
Odent S,
Masurel A,
Guéant JL,
Namour F
Orphanet J Rare Dis
2015 Dec 15;10:158.
doi: 10.1186/s13023-015-0375-x.
PMID: 26666653Free PMC Article
Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Burnett JR
IDrugs
2007 Nov;10(11):805-13.
PMID: 17968763
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
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
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
Jeannesson-Thivisol E,
Feillet F,
Chéry C,
Perrin P,
Battaglia-Hsu SF,
Herbeth B,
Cano A,
Barth M,
Fouilhoux A,
Mention K,
Labarthe F,
Arnoux JB,
Maillot F,
Lenaerts C,
Dumesnil C,
Wagner K,
Terral D,
Broué P,
de Parscau L,
Gay C,
Kuster A,
Bédu A,
Besson G,
Lamireau D,
Odent S,
Masurel A,
Guéant JL,
Namour F
Orphanet J Rare Dis
2015 Dec 15;10:158.
doi: 10.1186/s13023-015-0375-x.
PMID: 26666653Free PMC Article
Murad H,
Dabboul A,
Moassas F,
Alasmar D,
Al-Achkar W
Gene
2013 Oct 10;528(2):241-7.
Epub 2013 Jul 12
doi: 10.1016/j.gene.2013.07.001.
PMID: 23856132
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
Jeannesson-Thivisol E,
Feillet F,
Chéry C,
Perrin P,
Battaglia-Hsu SF,
Herbeth B,
Cano A,
Barth M,
Fouilhoux A,
Mention K,
Labarthe F,
Arnoux JB,
Maillot F,
Lenaerts C,
Dumesnil C,
Wagner K,
Terral D,
Broué P,
de Parscau L,
Gay C,
Kuster A,
Bédu A,
Besson G,
Lamireau D,
Odent S,
Masurel A,
Guéant JL,
Namour F
Orphanet J Rare Dis
2015 Dec 15;10:158.
doi: 10.1186/s13023-015-0375-x.
PMID: 26666653Free PMC Article
Couce ML,
Guler I,
Anca-Couce A,
Lojo M,
Mirás A,
Leis R,
Pérez-Muñuzuri A,
Fraga JM,
Gude F
Eur J Pediatr
2015 May;174(5):651-9.
Epub 2014 Nov 1
doi: 10.1007/s00431-014-2446-8.
PMID: 25367055
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
Porta F,
Mussa A,
Zanin A,
Greggio NA,
Burlina A,
Spada M
J Pediatr Gastroenterol Nutr
2011 Mar;52(3):345-50.
doi: 10.1097/MPG.0b013e3182093b32.
PMID: 21336059