Etiology
Ezer S,
Zuckerman S,
Segel R,
Zlotogora J
Am J Med Genet A
2022 Sep;188(9):2555-2559.
Epub 2022 Jul 1
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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.
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Ehmann P,
Lantos JD
Dev Med Child Neurol
2019 Dec;61(12):1358-1361.
Epub 2019 May 15
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PMID: 31090922
Kwon JM,
Matern D,
Kurtzberg J,
Wrabetz L,
Gelb MH,
Wenger DA,
Ficicioglu C,
Waldman AT,
Burton BK,
Hopkins PV,
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Orphanet J Rare Dis
2018 Feb 1;13(1):30.
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Escolar ML,
Kiely BT,
Shawgo E,
Hong X,
Gelb MH,
Orsini JJ,
Matern D,
Poe MD
Mol Genet Metab
2017 Jul;121(3):271-278.
Epub 2017 May 22
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PMID: 28579020Free PMC Article
Diagnosis
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.
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PMID: 35042231Free PMC Article
Zuccoli G,
Kim A,
Poe M,
Escolar ML
Pediatr Neurol
2020 Jul;108:99-105.
Epub 2019 Dec 2
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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
Escolar ML,
Kiely BT,
Shawgo E,
Hong X,
Gelb MH,
Orsini JJ,
Matern D,
Poe MD
Mol Genet Metab
2017 Jul;121(3):271-278.
Epub 2017 May 22
doi: 10.1016/j.ymgme.2017.05.015.
PMID: 28579020Free PMC Article
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,
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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
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PMID: 27171547
Udow S,
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Mhanni AA,
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Pediatr Neurol
2012 Oct;47(4):299-302.
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Beslow LA,
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Bönnemann CG
Pediatr Radiol
2008 Jun;38(6):694-6.
Epub 2008 Feb 12
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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,
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Genet Med
2018 Aug;20(8):847-854.
Epub 2017 Nov 9
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PMID: 29120458
Gupta A,
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Panigrahy A,
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Neuroimage Clin
2015;7:792-8.
Epub 2014 Sep 26
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Duffner PK,
Barczykowski A,
Jalal K,
Yan L,
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Carter RL
Pediatr Neurol
2011 Sep;45(3):141-8.
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Kemper AR,
Knapp AA,
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Metterville DR,
Perrin JM
Genet Med
2010 Sep;12(9):539-43.
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PMID: 20601893
Escolar ML,
Poe MD,
Martin HR,
Kurtzberg J
Pediatrics
2006 Sep;118(3):e879-89.
Epub 2006 Aug 21
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PMID: 16923928
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.
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PMID: 21824559
Escolar ML,
Poe MD,
Martin HR,
Kurtzberg J
Pediatrics
2006 Sep;118(3):e879-89.
Epub 2006 Aug 21
doi: 10.1542/peds.2006-0747.
PMID: 16923928