Etiology
Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E
J Inherit Metab Dis
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
doi: 10.1002/jimd.12286.
PMID: 32681750Free PMC Article
Piantanida E,
Ippolito S,
Gallo D,
Masiello E,
Premoli P,
Cusini C,
Rosetti S,
Sabatino J,
Segato S,
Trimarchi F,
Bartalena L,
Tanda ML
J Endocrinol Invest
2020 Jul;43(7):885-899.
Epub 2020 Mar 12
doi: 10.1007/s40618-020-01208-6.
PMID: 32166702
Chebib FT,
Perrone RD,
Chapman AB,
Dahl NK,
Harris PC,
Mrug M,
Mustafa RA,
Rastogi A,
Watnick T,
Yu ASL,
Torres VE
J Am Soc Nephrol
2018 Oct;29(10):2458-2470.
Epub 2018 Sep 18
doi: 10.1681/ASN.2018060590.
PMID: 30228150Free PMC Article
Simpson MA,
Freshwater DA
J R Nav Med Serv
2015;101(1):74-9.
PMID: 26292397
Poortmans JR,
Francaux M
Sports Med
2000 Sep;30(3):155-70.
doi: 10.2165/00007256-200030030-00002.
PMID: 10999421
Diagnosis
Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E
J Inherit Metab Dis
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
doi: 10.1002/jimd.12286.
PMID: 32681750Free PMC Article
Chebib FT,
Perrone RD,
Chapman AB,
Dahl NK,
Harris PC,
Mrug M,
Mustafa RA,
Rastogi A,
Watnick T,
Yu ASL,
Torres VE
J Am Soc Nephrol
2018 Oct;29(10):2458-2470.
Epub 2018 Sep 18
doi: 10.1681/ASN.2018060590.
PMID: 30228150Free PMC Article
Simpson MA,
Freshwater DA
J R Nav Med Serv
2015;101(1):74-9.
PMID: 26292397
Giannini EG,
Testa R,
Savarino V
CMAJ
2005 Feb 1;172(3):367-79.
doi: 10.1503/cmaj.1040752.
PMID: 15684121Free PMC Article
Rivlin RS
N Engl J Med
1970 Aug 27;283(9):463-72.
doi: 10.1056/NEJM197008272830906.
PMID: 4915004
Therapy
Chebib FT,
Perrone RD,
Chapman AB,
Dahl NK,
Harris PC,
Mrug M,
Mustafa RA,
Rastogi A,
Watnick T,
Yu ASL,
Torres VE
J Am Soc Nephrol
2018 Oct;29(10):2458-2470.
Epub 2018 Sep 18
doi: 10.1681/ASN.2018060590.
PMID: 30228150Free PMC Article
Kearns P,
Morland B
Curr Opin Pediatr
2014 Feb;26(1):37-42.
doi: 10.1097/MOP.0000000000000054.
PMID: 24362409
Lee MC,
Conway GS
Eur J Gastroenterol Hepatol
2013 Oct;25(10):1141-5.
doi: 10.1097/MEG.0b013e3283614b75.
PMID: 23603786
Poortmans JR,
Francaux M
Sports Med
2000 Sep;30(3):155-70.
doi: 10.2165/00007256-200030030-00002.
PMID: 10999421
Snodgrass SR
Mol Neurobiol
1992 Spring;6(1):41-73.
doi: 10.1007/BF02935566.
PMID: 1463588
Prognosis
Akamizu T
Thyroid
2018 Jan;28(1):32-40.
Epub 2017 Oct 5
doi: 10.1089/thy.2017.0243.
PMID: 28899229Free PMC Article
McGovern MM,
Avetisyan R,
Sanson BJ,
Lidove O
Orphanet J Rare Dis
2017 Feb 23;12(1):41.
doi: 10.1186/s13023-017-0572-x.
PMID: 28228103Free PMC Article
Powell LW,
Yapp TR
Clin Liver Dis
2000 Feb;4(1):211-28, viii.
doi: 10.1016/s1089-3261(05)70104-5.
PMID: 11232185
Snodgrass SR
Mol Neurobiol
1992 Spring;6(1):41-73.
doi: 10.1007/BF02935566.
PMID: 1463588
Scully CJ,
Anderson CJ,
Cannon GW
Semin Arthritis Rheum
1991 Apr;20(5):317-31.
doi: 10.1016/0049-0172(91)90032-u.
PMID: 2068577
Clinical prediction guides
Piantanida E,
Ippolito S,
Gallo D,
Masiello E,
Premoli P,
Cusini C,
Rosetti S,
Sabatino J,
Segato S,
Trimarchi F,
Bartalena L,
Tanda ML
J Endocrinol Invest
2020 Jul;43(7):885-899.
Epub 2020 Mar 12
doi: 10.1007/s40618-020-01208-6.
PMID: 32166702
Delahunty CM,
Eyres G,
Dufour JP
J Sep Sci
2006 Sep;29(14):2107-25.
doi: 10.1002/jssc.200500509.
PMID: 17069240
Häberle J,
Görg B,
Toutain A,
Rutsch F,
Benoist JF,
Gelot A,
Suc AL,
Koch HG,
Schliess F,
Häussinger D
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):352-8.
doi: 10.1007/s10545-006-0256-5.
PMID: 16763901
Kundel HL,
Polansky M
Radiology
2003 Aug;228(2):303-8.
Epub 2003 Jun 20
doi: 10.1148/radiol.2282011860.
PMID: 12819342
Snodgrass SR
Mol Neurobiol
1992 Spring;6(1):41-73.
doi: 10.1007/BF02935566.
PMID: 1463588