Etiology
Muenzer J,
Burton BK,
Amartino HM,
Harmatz PR,
Gutiérrez-Solana LG,
Ruiz-Garcia M,
Wu Y,
Merberg D,
Alexanderian D,
Jones SA
Orphanet J Rare Dis
2023 Nov 16;18(1):357.
doi: 10.1186/s13023-023-02805-3.
PMID: 37974184Free PMC Article
Saby JN,
Peters SU,
Benke TA,
Standridge SM,
Swanson LC,
Lieberman DN,
Olson HE,
Key AP,
Percy AK,
Neul JL,
Nelson CA,
Roberts TPL,
Marsh ED
J Neurodev Disord
2023 Mar 4;15(1):10.
doi: 10.1186/s11689-023-09479-9.
PMID: 36870948Free PMC Article
Mierlo PV,
Braakman H,
Vandenbussche N,
Schelhaas HJ,
Pillen S
Neuropediatrics
2022 Apr;53(2):109-114.
Epub 2021 Dec 21
doi: 10.1055/s-0041-1740551.
PMID: 34933379
Corre CS,
Grant N,
Sadjadi R,
Hayden D,
Becker C,
Gomery P,
Eichler FS
Orphanet J Rare Dis
2021 Jan 6;16(1):14.
doi: 10.1186/s13023-020-01596-1.
PMID: 33407709Free PMC Article
Jinnah HA,
Ceballos-Picot I,
Torres RJ,
Visser JE,
Schretlen DJ,
Verdu A,
Laróvere LE,
Chen CJ,
Cossu A,
Wu CH,
Sampat R,
Chang SJ,
de Kremer RD,
Nyhan W,
Harris JC,
Reich SG,
Puig JG;
Lesch-Nyhan Disease International Study Group
Brain
2010 Mar;133(Pt 3):671-89.
Epub 2010 Feb 22
doi: 10.1093/brain/awq013.
PMID: 20176575Free PMC Article
Diagnosis
Saby JN,
Peters SU,
Benke TA,
Standridge SM,
Swanson LC,
Lieberman DN,
Olson HE,
Key AP,
Percy AK,
Neul JL,
Nelson CA,
Roberts TPL,
Marsh ED
J Neurodev Disord
2023 Mar 4;15(1):10.
doi: 10.1186/s11689-023-09479-9.
PMID: 36870948Free PMC Article
Mierlo PV,
Braakman H,
Vandenbussche N,
Schelhaas HJ,
Pillen S
Neuropediatrics
2022 Apr;53(2):109-114.
Epub 2021 Dec 21
doi: 10.1055/s-0041-1740551.
PMID: 34933379
Jinnah HA,
Ceballos-Picot I,
Torres RJ,
Visser JE,
Schretlen DJ,
Verdu A,
Laróvere LE,
Chen CJ,
Cossu A,
Wu CH,
Sampat R,
Chang SJ,
de Kremer RD,
Nyhan W,
Harris JC,
Reich SG,
Puig JG;
Lesch-Nyhan Disease International Study Group
Brain
2010 Mar;133(Pt 3):671-89.
Epub 2010 Feb 22
doi: 10.1093/brain/awq013.
PMID: 20176575Free PMC Article
Roccella M
Minerva Pediatr
1999 Jul-Aug;51(7-8):271-8.
PMID: 10634060
Aubourg P,
Scotto J,
Rocchiccioli F,
Feldmann-Pautrat D,
Robain O
J Neurol Neurosurg Psychiatry
1986 Jan;49(1):77-86.
doi: 10.1136/jnnp.49.1.77.
PMID: 2420940Free PMC Article
Therapy
Vollebregt AAM,
Ebbink BJ,
Rizopoulos D,
Lequin MH,
Aarsen FK,
Shapiro EG,
van der Ploeg AT,
van den Hout JMP
J Inherit Metab Dis
2021 May;44(3):751-762.
Epub 2021 Jan 25
doi: 10.1002/jimd.12342.
PMID: 33330992Free PMC Article
Amaral COFD,
Straioto FG,
Napimoga MH,
Martinez EF
Braz Oral Res
2017 Sep 28;31:e79.
doi: 10.1590/1807-3107BOR-2017.vol31.0079.
PMID: 29019551
Vacca M,
Della Ragione F,
Scalabrì F,
D'Esposito M
Semin Cell Dev Biol
2016 Aug;56:78-87.
Epub 2016 Mar 17
doi: 10.1016/j.semcdb.2016.03.009.
PMID: 26994527
Loesch D,
Hagerman R
Adv Exp Med Biol
2012;769:78-114.
doi: 10.1007/978-1-4614-5434-2_6.
PMID: 23560306Free PMC Article
Dölen G,
Carpenter RL,
Ocain TD,
Bear MF
Pharmacol Ther
2010 Jul;127(1):78-93.
Epub 2010 Mar 18
doi: 10.1016/j.pharmthera.2010.02.008.
PMID: 20303363
Prognosis
Vollebregt AAM,
Ebbink BJ,
Rizopoulos D,
Lequin MH,
Aarsen FK,
Shapiro EG,
van der Ploeg AT,
van den Hout JMP
J Inherit Metab Dis
2021 May;44(3):751-762.
Epub 2021 Jan 25
doi: 10.1002/jimd.12342.
PMID: 33330992Free PMC Article
Chen J,
Schmidt RE,
Dahiya S
J Neuropathol Exp Neurol
2019 Jul 1;78(7):626-632.
doi: 10.1093/jnen/nlz040.
PMID: 31115468Free PMC Article
López-Sainz Á,
Salazar-Mendiguchía J,
García-Álvarez A,
Campuzano Larrea O,
López-Garrido MÁ,
García-Guereta L,
Fuentes Cañamero ME,
Climent Payá V,
Peña-Peña ML,
Zorio-Grima E,
Jordá-Burgos P,
Díez-López C,
Brugada R,
García-Pinilla JM,
García-Pavía P
Rev Esp Cardiol (Engl Ed)
2019 Jun;72(6):479-486.
Epub 2018 Aug 11
doi: 10.1016/j.rec.2018.04.035.
PMID: 30108015
Raspa M,
Franco V,
Bishop E,
Wheeler AC,
Wylie A,
Bailey DB Jr
Res Dev Disabil
2018 Jul;78:1-14.
Epub 2018 May 3
doi: 10.1016/j.ridd.2018.04.024.
PMID: 29730505
Aubourg P,
Scotto J,
Rocchiccioli F,
Feldmann-Pautrat D,
Robain O
J Neurol Neurosurg Psychiatry
1986 Jan;49(1):77-86.
doi: 10.1136/jnnp.49.1.77.
PMID: 2420940Free PMC Article
Clinical prediction guides
Muenzer J,
Burton BK,
Amartino HM,
Harmatz PR,
Gutiérrez-Solana LG,
Ruiz-Garcia M,
Wu Y,
Merberg D,
Alexanderian D,
Jones SA
Orphanet J Rare Dis
2023 Nov 16;18(1):357.
doi: 10.1186/s13023-023-02805-3.
PMID: 37974184Free PMC Article
Vollebregt AAM,
Ebbink BJ,
Rizopoulos D,
Lequin MH,
Aarsen FK,
Shapiro EG,
van der Ploeg AT,
van den Hout JMP
J Inherit Metab Dis
2021 May;44(3):751-762.
Epub 2021 Jan 25
doi: 10.1002/jimd.12342.
PMID: 33330992Free PMC Article
Chen J,
Schmidt RE,
Dahiya S
J Neuropathol Exp Neurol
2019 Jul 1;78(7):626-632.
doi: 10.1093/jnen/nlz040.
PMID: 31115468Free PMC Article
Sakurai K,
Ohashi T,
Shimozawa N,
Joo-Hyun S,
Okuyama T,
Ida H
Brain Dev
2019 Jan;41(1):50-56.
Epub 2018 Aug 1
doi: 10.1016/j.braindev.2018.07.007.
PMID: 30077509
Roccella M
Minerva Pediatr
1999 Jul-Aug;51(7-8):271-8.
PMID: 10634060