Etiology
Ezer S,
Zuckerman S,
Segel R,
Zlotogora J
Am J Med Genet A
2022 Sep;188(9):2555-2559.
Epub 2022 Jul 1
doi: 10.1002/ajmg.a.62882.
PMID: 35775617
Page KM,
Ream MA,
Rangarajan HG,
Galindo R,
Mian AY,
Ho ML,
Provenzale J,
Gustafson KE,
Rubin J,
Shenoy S,
Kurtzberg J
Blood Adv
2022 May 10;6(9):2947-2956.
doi: 10.1182/bloodadvances.2021006094.
PMID: 35042231Free PMC Article
Ehmann P,
Lantos JD
Dev Med Child Neurol
2019 Dec;61(12):1358-1361.
Epub 2019 May 15
doi: 10.1111/dmcn.14258.
PMID: 31090922
Kwon JM,
Matern D,
Kurtzberg J,
Wrabetz L,
Gelb MH,
Wenger DA,
Ficicioglu C,
Waldman AT,
Burton BK,
Hopkins PV,
Orsini JJ
Orphanet J Rare Dis
2018 Feb 1;13(1):30.
doi: 10.1186/s13023-018-0766-x.
PMID: 29391017Free PMC Article
Minter Baerg MM,
Stoway SD,
Hart J,
Mott L,
Peck DS,
Nett SL,
Eckerman JS,
Lacey JM,
Turgeon CT,
Gavrilov D,
Oglesbee D,
Raymond K,
Tortorelli S,
Matern D,
Mørkrid L,
Rinaldo P
Genet Med
2018 Aug;20(8):847-854.
Epub 2017 Nov 9
doi: 10.1038/gim.2017.194.
PMID: 29120458
Diagnosis
Zuccoli G,
Kim A,
Poe M,
Escolar ML
Pediatr Neurol
2020 Jul;108:99-105.
Epub 2019 Dec 2
doi: 10.1016/j.pediatrneurol.2019.11.014.
PMID: 32197817Free PMC Article
Ehmann P,
Lantos JD
Dev Med Child Neurol
2019 Dec;61(12):1358-1361.
Epub 2019 May 15
doi: 10.1111/dmcn.14258.
PMID: 31090922
Kwon JM,
Matern D,
Kurtzberg J,
Wrabetz L,
Gelb MH,
Wenger DA,
Ficicioglu C,
Waldman AT,
Burton BK,
Hopkins PV,
Orsini JJ
Orphanet J Rare Dis
2018 Feb 1;13(1):30.
doi: 10.1186/s13023-018-0766-x.
PMID: 29391017Free PMC Article
Boelens JJ
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):413-20.
doi: 10.1007/s10545-005-0258-8.
PMID: 16763911
Sasaki M,
Sakuragawa N,
Takashima S,
Hanaoka S,
Arima M
Pediatr Neurol
1991 Jul-Aug;7(4):283-8.
doi: 10.1016/0887-8994(91)90046-n.
PMID: 1930420
Therapy
Bongarzone ER,
Escolar ML,
Gray SJ,
Kafri T,
Vite CH,
Sands MS
Pediatr Endocrinol Rev
2016 Jun;13 Suppl 1:689-96.
PMID: 27491217
Wasserstein MP,
Andriola M,
Arnold G,
Aron A,
Duffner P,
Erbe RW,
Escolar ML,
Estrella L,
Galvin-Parton P,
Iglesias A,
Kay DM,
Kronn DF,
Kurtzberg J,
Kwon JM,
Langan TJ,
Levy PA,
Naidich TP,
Orsini JJ,
Pellegrino JE,
Provenzale JM,
Wenger DA,
Caggana M
Genet Med
2016 Dec;18(12):1235-1243.
Epub 2016 May 12
doi: 10.1038/gim.2016.35.
PMID: 27171547
Udow S,
Bunge M,
Ryner L,
Mhanni AA,
Salman MS
Pediatr Neurol
2012 Oct;47(4):299-302.
doi: 10.1016/j.pediatrneurol.2012.06.015.
PMID: 22964446
Beslow LA,
Schwartz ES,
Bönnemann CG
Pediatr Radiol
2008 Jun;38(6):694-6.
Epub 2008 Feb 12
doi: 10.1007/s00247-008-0763-7.
PMID: 18265968
Prognosis
Minter Baerg MM,
Stoway SD,
Hart J,
Mott L,
Peck DS,
Nett SL,
Eckerman JS,
Lacey JM,
Turgeon CT,
Gavrilov D,
Oglesbee D,
Raymond K,
Tortorelli S,
Matern D,
Mørkrid L,
Rinaldo P
Genet Med
2018 Aug;20(8):847-854.
Epub 2017 Nov 9
doi: 10.1038/gim.2017.194.
PMID: 29120458
Gupta A,
Poe MD,
Styner MA,
Panigrahy A,
Escolar ML
Neuroimage Clin
2015;7:792-8.
Epub 2014 Sep 26
doi: 10.1016/j.nicl.2014.09.014.
PMID: 25844309Free PMC Article
Duffner PK,
Barczykowski A,
Jalal K,
Yan L,
Kay DM,
Carter RL
Pediatr Neurol
2011 Sep;45(3):141-8.
doi: 10.1016/j.pediatrneurol.2011.05.007.
PMID: 21824559
Kemper AR,
Knapp AA,
Green NS,
Comeau AM,
Metterville DR,
Perrin JM
Genet Med
2010 Sep;12(9):539-43.
doi: 10.1097/GIM.0b013e3181e85721.
PMID: 20601893
Farley TJ,
Ketonen LM,
Bodensteiner JB,
Wang DD
Pediatr Neurol
1992 Nov-Dec;8(6):455-8.
doi: 10.1016/0887-8994(92)90009-n.
PMID: 1476576
Clinical prediction guides
Allewelt H,
Taskindoust M,
Troy J,
Page K,
Wood S,
Parikh S,
Prasad VK,
Kurtzberg J
Biol Blood Marrow Transplant
2018 Nov;24(11):2233-2238.
Epub 2018 Jun 20
doi: 10.1016/j.bbmt.2018.06.020.
PMID: 29933067
Minter Baerg MM,
Stoway SD,
Hart J,
Mott L,
Peck DS,
Nett SL,
Eckerman JS,
Lacey JM,
Turgeon CT,
Gavrilov D,
Oglesbee D,
Raymond K,
Tortorelli S,
Matern D,
Mørkrid L,
Rinaldo P
Genet Med
2018 Aug;20(8):847-854.
Epub 2017 Nov 9
doi: 10.1038/gim.2017.194.
PMID: 29120458
Gupta A,
Poe MD,
Styner MA,
Panigrahy A,
Escolar ML
Neuroimage Clin
2015;7:792-8.
Epub 2014 Sep 26
doi: 10.1016/j.nicl.2014.09.014.
PMID: 25844309Free PMC Article
Duffner PK,
Barczykowski A,
Jalal K,
Yan L,
Kay DM,
Carter RL
Pediatr Neurol
2011 Sep;45(3):141-8.
doi: 10.1016/j.pediatrneurol.2011.05.007.
PMID: 21824559
Sasaki M,
Sakuragawa N,
Takashima S,
Hanaoka S,
Arima M
Pediatr Neurol
1991 Jul-Aug;7(4):283-8.
doi: 10.1016/0887-8994(91)90046-n.
PMID: 1930420