Etiology
Zweers H,
van Wegberg AMJ,
Janssen MCH,
Wortmann SB
Orphanet J Rare Dis
2021 Jul 3;16(1):295.
doi: 10.1186/s13023-021-01927-w.
PMID: 34217336Free PMC Article
Prasad N,
Gottlich C,
Nhan D,
Hamosh A,
Sponseller PD
J Pediatr Orthop
2021 Jul 1;41(6):e457-e463.
doi: 10.1097/BPO.0000000000001812.
PMID: 34096551
Wasim M,
Awan FR,
Khan HN,
Tawab A,
Iqbal M,
Ayesha H
Biochem Genet
2018 Apr;56(1-2):7-21.
Epub 2017 Nov 1
doi: 10.1007/s10528-017-9825-6.
PMID: 29094226
Bird S
Aust Fam Physician
2014 May;43(5):331-2.
PMID: 24791779
Robinson BH,
Sherwood WG
J Inherit Metab Dis
1984;7 Suppl 1:69-73.
doi: 10.1007/BF03047378.
PMID: 6434848
Diagnosis
Zweers H,
van Wegberg AMJ,
Janssen MCH,
Wortmann SB
Orphanet J Rare Dis
2021 Jul 3;16(1):295.
doi: 10.1186/s13023-021-01927-w.
PMID: 34217336Free PMC Article
Wasim M,
Awan FR,
Khan HN,
Tawab A,
Iqbal M,
Ayesha H
Biochem Genet
2018 Apr;56(1-2):7-21.
Epub 2017 Nov 1
doi: 10.1007/s10528-017-9825-6.
PMID: 29094226
Chen Z,
Zhong C
Prog Neurobiol
2013 Sep;108:21-43.
Epub 2013 Jul 11
doi: 10.1016/j.pneurobio.2013.06.004.
PMID: 23850509
De Meirleir L
Handb Clin Neurol
2013;113:1667-73.
doi: 10.1016/B978-0-444-59565-2.00034-4.
PMID: 23622387
Robinson BH,
Sherwood WG
J Inherit Metab Dis
1984;7 Suppl 1:69-73.
doi: 10.1007/BF03047378.
PMID: 6434848
Therapy
Karissa P,
Simpson T,
Dawson SP,
Low TY,
Tay SH,
Nordin FDA,
Zain SM,
Lee PY,
Pung YF
Br J Biomed Sci
2022;79:10382.
Epub 2022 May 19
doi: 10.3389/bjbs.2022.10382.
PMID: 35996497Free PMC Article
Lavorato M,
Nakamaru-Ogiso E,
Mathew ND,
Herman E,
Shah N,
Haroon S,
Xiao R,
Seiler C,
Falk MJ
JCI Insight
2022 Aug 22;7(16)
doi: 10.1172/jci.insight.156346.
PMID: 35881484Free PMC Article
Zweers H,
van Wegberg AMJ,
Janssen MCH,
Wortmann SB
Orphanet J Rare Dis
2021 Jul 3;16(1):295.
doi: 10.1186/s13023-021-01927-w.
PMID: 34217336Free PMC Article
Pasca L,
De Giorgis V,
Macasaet JA,
Trentani C,
Tagliabue A,
Veggiotti P
Eur J Pediatr
2016 Oct;175(10):1267-76.
Epub 2016 Sep 1
doi: 10.1007/s00431-016-2765-z.
PMID: 27586246
Brown G
J Inherit Metab Dis
2014 Jul;37(4):577-85.
Epub 2014 May 1
doi: 10.1007/s10545-014-9712-9.
PMID: 24789339
Prognosis
Verma A,
Lehman AN,
Gokcan H,
Cropcho L,
Black D,
Dobrowolski SF,
Vockley J,
Bedoyan JK
Mol Genet Genomic Med
2024 Jan;12(1):e2283.
Epub 2023 Sep 8
doi: 10.1002/mgg3.2283.
PMID: 37688338Free PMC Article
Zweers H,
van Wegberg AMJ,
Janssen MCH,
Wortmann SB
Orphanet J Rare Dis
2021 Jul 3;16(1):295.
doi: 10.1186/s13023-021-01927-w.
PMID: 34217336Free PMC Article
Prasad N,
Gottlich C,
Nhan D,
Hamosh A,
Sponseller PD
J Pediatr Orthop
2021 Jul 1;41(6):e457-e463.
doi: 10.1097/BPO.0000000000001812.
PMID: 34096551
Patel KP,
O'Brien TW,
Subramony SH,
Shuster J,
Stacpoole PW
Mol Genet Metab
2012 Jan;105(1):34-43.
Epub 2011 Oct 7
doi: 10.1016/j.ymgme.2011.09.032.
PMID: 22079328Free PMC Article
Laurin JM,
Lindor KD
Dig Dis
1994 Nov-Dec;12(6):331-50.
doi: 10.1159/000171469.
PMID: 7712616
Clinical prediction guides
Verma A,
Lehman AN,
Gokcan H,
Cropcho L,
Black D,
Dobrowolski SF,
Vockley J,
Bedoyan JK
Mol Genet Genomic Med
2024 Jan;12(1):e2283.
Epub 2023 Sep 8
doi: 10.1002/mgg3.2283.
PMID: 37688338Free PMC Article
Gokcan H,
Bedoyan JK,
Isayev O
J Chem Inf Model
2022 Jul 25;62(14):3463-3475.
Epub 2022 Jul 7
doi: 10.1021/acs.jcim.2c00630.
PMID: 35797142Free PMC Article
Stacpoole PW,
Kerr DS,
Barnes C,
Bunch ST,
Carney PR,
Fennell EM,
Felitsyn NM,
Gilmore RL,
Greer M,
Henderson GN,
Hutson AD,
Neiberger RE,
O'Brien RG,
Perkins LA,
Quisling RG,
Shroads AL,
Shuster JJ,
Silverstein JH,
Theriaque DW,
Valenstein E
Pediatrics
2006 May;117(5):1519-31.
doi: 10.1542/peds.2005-1226.
PMID: 16651305
Sugden MC,
Holness MJ
Curr Drug Targets Immune Endocr Metabol Disord
2002 Jul;2(2):151-65.
PMID: 12476789
Imahori K,
Uchida T
J Biochem
1997 Feb;121(2):179-88.
PMID: 9089387