Etiology
Randell NJS,
Barker-Collo SL,
Murrell K,
Wilson C
N Z Med J
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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.
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Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
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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
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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
Diagnosis
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
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
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
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
Burnett JR
IDrugs
2007 Nov;10(11):805-13.
PMID: 17968763
Dhondt JL
J Pediatr
1984 Apr;104(4):501-8.
doi: 10.1016/s0022-3476(84)80537-5.
PMID: 6142937
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
Vieira Neto E,
Laranjeira F,
Quelhas D,
Ribeiro I,
Seabra A,
Mineiro N,
Carvalho LM,
Lacerda L,
Ribeiro MG
Mol Genet Genomic Med
2019 May;7(5):e610.
Epub 2019 Mar 3
doi: 10.1002/mgg3.610.
PMID: 30829006Free PMC Article
Himmelreich N,
Shen N,
Okun JG,
Thiel C,
Hoffmann GF,
Blau N
Mol Genet Metab
2018 Sep;125(1-2):86-95.
Epub 2018 Jun 23
doi: 10.1016/j.ymgme.2018.06.011.
PMID: 30037505
Clinical prediction guides
Randell NJS,
Barker-Collo SL,
Murrell K,
Wilson C
N Z Med J
2022 Dec 16;135(1567):31-42.
PMID: 36521084
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
Bassanini G,
Ceccarani C,
Borgo F,
Severgnini M,
Rovelli V,
Morace G,
Verduci E,
Borghi E
Front Cell Infect Microbiol
2019;9:101.
Epub 2019 Apr 16
doi: 10.3389/fcimb.2019.00101.
PMID: 31058098Free 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
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