Etiology
Takahashi I,
Obara T,
Ishikuro M,
Murakami K,
Ueno F,
Noda A,
Onuma T,
Shinoda G,
Nishimura T,
Tsuchiya KJ,
Kuriyama S
JAMA Pediatr
2023 Oct 1;177(10):1039-1046.
doi: 10.1001/jamapediatrics.2023.3057.
PMID: 37603356Free PMC Article
Horvath GA,
Blau N,
Ferreira CR
Mol Genet Metab
2022 Dec;137(4):445-448.
Epub 2021 Mar 13
doi: 10.1016/j.ymgme.2021.03.008.
PMID: 33775522Free PMC Article
Lu WP,
Tsai WH,
Lin LY,
Hong RB,
Hwang YS
Dev Neurorehabil
2019 Oct;22(7):487-495.
Epub 2018 Oct 30
doi: 10.1080/17518423.2018.1537317.
PMID: 30376388
Veroniki AA,
Rios P,
Cogo E,
Straus SE,
Finkelstein Y,
Kealey R,
Reynen E,
Soobiah C,
Thavorn K,
Hutton B,
Hemmelgarn BR,
Yazdi F,
D'Souza J,
MacDonald H,
Tricco AC
BMJ Open
2017 Jul 20;7(7):e017248.
doi: 10.1136/bmjopen-2017-017248.
PMID: 28729328Free PMC Article
Martiniuk AL,
Vujovich-Dunn C,
Park M,
Yu W,
Lucas BR
J Dev Behav Pediatr
2017 Jan;38(1):67-78.
doi: 10.1097/DBP.0000000000000376.
PMID: 28009719
Diagnosis
Durham EL,
Angireddy R,
Black A,
Melendez-Perez A,
Smith S,
Gonzalez EM,
Navarro KG,
Díaz A,
Bhoj EJK,
Katsura KA
Trends Mol Med
2023 Oct;29(10):783-785.
Epub 2023 Jul 14
doi: 10.1016/j.molmed.2023.06.009.
PMID: 37455236Free PMC Article
Gupta N
Indian J Pediatr
2023 Feb;90(2):160-167.
Epub 2022 Nov 28
doi: 10.1007/s12098-022-04345-3.
PMID: 36441387
Choo YY,
Agarwal P,
How CH,
Yeleswarapu SP
Singapore Med J
2019 Mar;60(3):119-123.
doi: 10.11622/smedj.2019025.
PMID: 30997518Free PMC Article
Vasudevan P,
Suri M
Clin Med (Lond)
2017 Dec;17(6):558-561.
doi: 10.7861/clinmedicine.17-6-558.
PMID: 29196358Free PMC Article
Cooper GM,
Coe BP,
Girirajan S,
Rosenfeld JA,
Vu TH,
Baker C,
Williams C,
Stalker H,
Hamid R,
Hannig V,
Abdel-Hamid H,
Bader P,
McCracken E,
Niyazov D,
Leppig K,
Thiese H,
Hummel M,
Alexander N,
Gorski J,
Kussmann J,
Shashi V,
Johnson K,
Rehder C,
Ballif BC,
Shaffer LG,
Eichler EE
Nat Genet
2011 Aug 14;43(9):838-46.
doi: 10.1038/ng.909.
PMID: 21841781Free PMC Article
Therapy
Williams MJ,
Ramson JA,
Brownfoot FC
Cochrane Database Syst Rev
2022 Aug 9;8(8):CD006764.
doi: 10.1002/14651858.CD006764.pub4.
PMID: 35943347Free PMC Article
McGoldrick E,
Stewart F,
Parker R,
Dalziel SR
Cochrane Database Syst Rev
2020 Dec 25;12(12):CD004454.
doi: 10.1002/14651858.CD004454.pub4.
PMID: 33368142Free PMC Article
Martin GI
J Perinatol
2020 Oct;40(10):1470-1476.
Epub 2020 Jun 7
doi: 10.1038/s41372-020-0708-z.
PMID: 32507859
Lucas BR,
Elliott EJ,
Coggan S,
Pinto RZ,
Jirikowic T,
McCoy SW,
Latimer J
BMC Pediatr
2016 Nov 29;16(1):193.
doi: 10.1186/s12887-016-0731-6.
PMID: 27899082Free PMC Article
Pelc K,
Boyd SG,
Cheron G,
Dan B
Seizure
2008 Apr;17(3):211-7.
Epub 2007 Sep 29
doi: 10.1016/j.seizure.2007.08.004.
PMID: 17904873
Prognosis
Litt JS,
Campbell DE
Clin Perinatol
2023 Mar;50(1):225-238.
doi: 10.1016/j.clp.2022.11.004.
PMID: 36868707
Del Rosario C,
Slevin M,
Molloy EJ,
Quigley J,
Nixon E
Arch Dis Child Educ Pract Ed
2021 Apr;106(2):108-112.
Epub 2020 Aug 28
doi: 10.1136/archdischild-2020-319063.
PMID: 32859738
Souka AP,
Von Kaisenberg CS,
Hyett JA,
Sonek JD,
Nicolaides KH
Am J Obstet Gynecol
2005 Apr;192(4):1005-21.
doi: 10.1016/j.ajog.2004.12.093.
PMID: 15846173
Hennekam RC
Am J Med Genet C Semin Med Genet
2003 Feb 15;117C(1):42-8.
doi: 10.1002/ajmg.c.10019.
PMID: 12561057
Akanli LF,
Cohen-Addad NE,
Malabanan NV,
Margono F,
Krilov MA
Am J Perinatol
1997 May;14(5):271-3.
doi: 10.1055/s-2007-994142.
PMID: 9259942
Clinical prediction guides
Lipman AR,
Fan X,
Shen Y,
Chung WK
Clin Genet
2022 Oct;102(4):288-295.
Epub 2022 Jun 26
doi: 10.1111/cge.14180.
PMID: 35722745Free PMC Article
Del Rosario C,
Slevin M,
Molloy EJ,
Quigley J,
Nixon E
Arch Dis Child Educ Pract Ed
2021 Apr;106(2):108-112.
Epub 2020 Aug 28
doi: 10.1136/archdischild-2020-319063.
PMID: 32859738
Ziats MN,
Ahmad A,
Bernat JA,
Fisher R,
Glassford M,
Hannibal MC,
Jacher JE,
Weiser N,
Keegan CE,
Lee KN,
Marzulla TB,
O'Connor BC,
Quinonez SC,
Seemann L,
Turner L,
Bielas S,
Harris NL,
Ogle JD,
Innis JW,
Martin DM
Pediatr Res
2020 Mar;87(4):735-739.
Epub 2019 Oct 16
doi: 10.1038/s41390-019-0611-5.
PMID: 31618753Free PMC Article
Hebebrand M,
Hüffmeier U,
Trollmann R,
Hehr U,
Uebe S,
Ekici AB,
Kraus C,
Krumbiegel M,
Reis A,
Thiel CT,
Popp B
Orphanet J Rare Dis
2019 Feb 11;14(1):38.
doi: 10.1186/s13023-019-1020-x.
PMID: 30744660Free PMC Article
Orsini JJ,
Kay DM,
Saavedra-Matiz CA,
Wenger DA,
Duffner PK,
Erbe RW,
Biski C,
Martin M,
Krein LM,
Nichols M,
Kurtzberg J,
Escolar ML,
Adams DJ,
Arnold GL,
Iglesias A,
Galvin-Parton P,
Kronn DF,
Kwon JM,
Levy PA,
Pellegrino JE,
Shur N,
Wasserstein MP,
Caggana M;
New York State Krabbe Disease Consortium
Genet Med
2016 Mar;18(3):239-48.
Epub 2016 Jan 21
doi: 10.1038/gim.2015.211.
PMID: 26795590