Etiology
Peia F,
Veiga NC,
Gomes AP,
Santos BND,
Marques NMS,
Glória IPDS,
Goulardins JB
Pediatr Phys Ther
2023 Apr 1;35(2):202-210.
Epub 2023 Mar 3
doi: 10.1097/PEP.0000000000000999.
PMID: 36867588
Hussein ZA,
Salem IA,
Ali MS
J Musculoskelet Neuronal Interact
2019 Dec 1;19(4):500-506.
PMID: 31789301Free PMC Article
Arvedson JC
Eur J Clin Nutr
2013 Dec;67 Suppl 2:S9-12.
doi: 10.1038/ejcn.2013.224.
PMID: 24301008
Babb A,
Carlson WO
S D Med
2008 Feb;61(2):53, 55-7.
PMID: 18432151
Accardo J,
Kammann H,
Hoon AH Jr
J Pediatr
2004 Aug;145(2 Suppl):S19-27.
doi: 10.1016/j.jpeds.2004.05.018.
PMID: 15292883
Diagnosis
Sinibaldi L,
Garone G,
Mandarino A,
Iarossi G,
Chioma L,
Dentici ML,
Merla G,
Agolini E,
Micalizzi A,
Mancini C,
Niceta M,
Macchiaiolo M,
Diodato D,
Onesimo R,
Blandino R,
Delogu AB,
De Rosa G,
Trevisan V,
Iademarco M,
Zampino G,
Tartaglia M,
Novelli A,
Bartuli A,
Digilio MC,
Calcagni G
Clin Genet
2023 Nov;104(5):528-541.
Epub 2023 Jul 17
doi: 10.1111/cge.14404.
PMID: 37455656
des Portes V
Handb Clin Neurol
2013;111:297-306.
doi: 10.1016/B978-0-444-52891-9.00035-X.
PMID: 23622180
Dutra LA,
Braga-Neto P,
Pedroso JL,
Povoas Barsottini OG
Adv Exp Med Biol
2012;724:344-50.
doi: 10.1007/978-1-4614-0653-2_26.
PMID: 22411255
Gordon N
Dev Med Child Neurol
2007 Feb;49(2):152-4.
doi: 10.1111/j.1469-8749.2007.00152.x.
PMID: 17254005
Eliasson AC,
Krumlinde-Sundholm L,
Rösblad B,
Beckung E,
Arner M,
Ohrvall AM,
Rosenbaum P
Dev Med Child Neurol
2006 Jul;48(7):549-54.
doi: 10.1017/S0012162206001162.
PMID: 16780622
Therapy
Chowdhury S,
Chowdhury S
Int J Immunopathol Pharmacol
2023 Jan-Dec;37:3946320231199349.
doi: 10.1177/03946320231199349.
PMID: 37681361Free PMC Article
Matusiak-Wieczorek E,
Dziankowska-Zaborszczyk E,
Synder M,
Borowski A
Int J Environ Res Public Health
2020 Sep 19;17(18)
doi: 10.3390/ijerph17186846.
PMID: 32961681Free PMC Article
Hussein ZA,
Salem IA,
Ali MS
J Musculoskelet Neuronal Interact
2019 Dec 1;19(4):500-506.
PMID: 31789301Free PMC Article
Multani I,
Manji J,
Hastings-Ison T,
Khot A,
Graham K
Paediatr Drugs
2019 Aug;21(4):261-281.
doi: 10.1007/s40272-019-00344-8.
PMID: 31257556Free PMC Article
Hyland K,
Shoffner J,
Heales SJ
J Inherit Metab Dis
2010 Oct;33(5):563-70.
Epub 2010 Jul 29
doi: 10.1007/s10545-010-9159-6.
PMID: 20668945
Prognosis
Spiegel R,
Schwahn BC,
Squires L,
Confer N
J Inherit Metab Dis
2022 May;45(3):456-469.
Epub 2022 Mar 3
doi: 10.1002/jimd.12488.
PMID: 35192225Free PMC Article
Multani I,
Manji J,
Hastings-Ison T,
Khot A,
Graham K
Paediatr Drugs
2019 Aug;21(4):261-281.
doi: 10.1007/s40272-019-00344-8.
PMID: 31257556Free PMC Article
Cho KH,
Shim SH,
Kim M
Clin Genet
2018 Apr;93(4):721-730.
Epub 2017 Sep 17
doi: 10.1111/cge.13058.
PMID: 28543186
Babb A,
Carlson WO
S D Med
2008 Feb;61(2):53, 55-7.
PMID: 18432151
Dabney KW,
Lipton GE,
Miller F
Curr Opin Pediatr
1997 Feb;9(1):81-8.
doi: 10.1097/00008480-199702000-00017.
PMID: 9088760
Clinical prediction guides
Sileo FG,
Zöllner J,
D'Antonio F,
Islam S,
Papageorghiou AT,
Khalil A
Ultrasound Obstet Gynecol
2022 May;59(5):585-595.
doi: 10.1002/uog.24766.
PMID: 34529308
Multani I,
Manji J,
Hastings-Ison T,
Khot A,
Graham K
Paediatr Drugs
2019 Aug;21(4):261-281.
doi: 10.1007/s40272-019-00344-8.
PMID: 31257556Free PMC Article
Echenne B,
Bassez G
Handb Clin Neurol
2013;113:1387-93.
doi: 10.1016/B978-0-444-59565-2.00009-5.
PMID: 23622362
Babb A,
Carlson WO
S D Med
2008 Feb;61(2):53, 55-7.
PMID: 18432151
Eliasson AC,
Krumlinde-Sundholm L,
Rösblad B,
Beckung E,
Arner M,
Ohrvall AM,
Rosenbaum P
Dev Med Child Neurol
2006 Jul;48(7):549-54.
doi: 10.1017/S0012162206001162.
PMID: 16780622