Etiology
Harteveld CL,
Achour A,
Arkesteijn SJG,
Ter Huurne J,
Verschuren M,
Bhagwandien-Bisoen S,
Schaap R,
Vijfhuizen L,
El Idrissi H,
Koopmann TT
Int J Lab Hematol
2022 Sep;44 Suppl 1(Suppl 1):28-36.
doi: 10.1111/ijlh.13885.
PMID: 36074711Free PMC Article
Sheppard SE,
Lalonde E,
Adzick NS,
Beck AE,
Bhatti T,
De Leon DD,
Duffy KA,
Ganguly A,
Hathaway E,
Ji J,
Linn R,
Lord K,
Randolph LM,
Sajorda B,
States L,
Conlin LK,
Kalish JM
Genet Med
2019 Nov;21(11):2644-2649.
Epub 2019 May 31
doi: 10.1038/s41436-019-0551-9.
PMID: 31147633Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Castanet M,
Polak M
Horm Res Paediatr
2010;73(6):423-9.
Epub 2010 May 6
doi: 10.1159/000281438.
PMID: 20453517
Ferrer-Bolufer I,
Dalmau J,
Quiroga R,
Oltra S,
Orellana C,
Monfort S,
Roselló M,
De La Osa A,
Martinez F
J Inherit Metab Dis
2009 Dec;32 Suppl 1:S349-53.
Epub 2009 Dec 23
doi: 10.1007/s10545-009-9014-9.
PMID: 20033293
Diagnosis
Yamada M,
Okuno H,
Okamoto N,
Suzuki H,
Miya F,
Takenouchi T,
Kosaki K
Eur J Med Genet
2023 Feb;66(2):104690.
Epub 2022 Dec 30
doi: 10.1016/j.ejmg.2022.104690.
PMID: 36587803
Harteveld CL,
Achour A,
Arkesteijn SJG,
Ter Huurne J,
Verschuren M,
Bhagwandien-Bisoen S,
Schaap R,
Vijfhuizen L,
El Idrissi H,
Koopmann TT
Int J Lab Hematol
2022 Sep;44 Suppl 1(Suppl 1):28-36.
doi: 10.1111/ijlh.13885.
PMID: 36074711Free PMC Article
Baker SW,
Ryan E,
Kalish JM,
Ganguly A
Prenat Diagn
2021 Jun;41(7):817-822.
Epub 2021 May 18
doi: 10.1002/pd.5953.
PMID: 33974722
Jüppner H
J Clin Endocrinol Metab
2021 May 13;106(6):1541-1552.
doi: 10.1210/clinem/dgab060.
PMID: 33529330Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Therapy
Akutsu SN,
Miyamoto T,
Oba D,
Tomioka K,
Ochiai H,
Ohashi H,
Matsuura S
PLoS One
2022;17(3):e0264965.
Epub 2022 Mar 10
doi: 10.1371/journal.pone.0264965.
PMID: 35271616Free PMC Article
Bharucha-Goebel DX,
Norato G,
Saade D,
Paredes E,
Biancavilla V,
Donkervoort S,
Kaur R,
Lehky T,
Fink M,
Armao D,
Gray SJ,
Waite M,
Debs S,
Averion G,
Hu Y,
Zein WM,
Foley AR,
Jain M,
Bönnemann CG
Brain
2021 Nov 29;144(10):3239-3250.
doi: 10.1093/brain/awab179.
PMID: 34114613Free PMC Article
Garcin L,
Kariyawasam D,
Busiah K,
Fauret-Amsellem AL,
Le Bourgeois F,
Vaivre-Douret L,
Cavé H,
Polak M,
Beltrand J
Pediatr Diabetes
2018 Jun;19(4):663-669.
Epub 2018 Mar 4
doi: 10.1111/pedi.12635.
PMID: 29504184
Owen CJ,
Habeb A,
Pearce SH,
Wright M,
Ichikawa S,
Sorenson AH,
Econs MJ,
Cheetham TD
Horm Res
2009;71(4):237-44.
Epub 2009 Mar 4
doi: 10.1159/000201113.
PMID: 19258716
Hussain K,
Flanagan SE,
Smith VV,
Ashworth M,
Day M,
Pierro A,
Ellard S
Diabetes
2008 Jan;57(1):259-63.
Epub 2007 Oct 17
doi: 10.2337/db07-0998.
PMID: 17942822
Prognosis
Baker SW,
Ryan E,
Kalish JM,
Ganguly A
Prenat Diagn
2021 Jun;41(7):817-822.
Epub 2021 May 18
doi: 10.1002/pd.5953.
PMID: 33974722
Cassini TA,
Robertson AK,
Bican AG,
Cogan JD,
Hannig VL,
Newman JH,
Hamid R,
Phillips JA 3rd;
Undiagnosed Diseases Network
Am J Med Genet A
2018 May;176(5):1175-1179.
Epub 2018 Jan 17
doi: 10.1002/ajmg.a.38493.
PMID: 29341437Free PMC Article
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Asselta R,
Duga S,
Tenchini ML
J Thromb Haemost
2006 Oct;4(10):2115-29.
doi: 10.1111/j.1538-7836.2006.02094.x.
PMID: 16999847
Shield JP
Horm Res
2000;53 Suppl 1:7-11.
doi: 10.1159/000053198.
PMID: 10895036
Clinical prediction guides
Yamada M,
Okuno H,
Okamoto N,
Suzuki H,
Miya F,
Takenouchi T,
Kosaki K
Eur J Med Genet
2023 Feb;66(2):104690.
Epub 2022 Dec 30
doi: 10.1016/j.ejmg.2022.104690.
PMID: 36587803
Jüppner H
J Clin Endocrinol Metab
2021 May 13;106(6):1541-1552.
doi: 10.1210/clinem/dgab060.
PMID: 33529330Free PMC Article
Tafaj O,
Jüppner H
J Endocrinol Invest
2017 Apr;40(4):347-356.
Epub 2016 Dec 19
doi: 10.1007/s40618-016-0588-4.
PMID: 27995443
Coffey AJ,
Durkie M,
Hague S,
McLay K,
Emmerson J,
Lo C,
Klaffke S,
Joyce CJ,
Dhawan A,
Hadzic N,
Mieli-Vergani G,
Kirk R,
Elizabeth Allen K,
Nicholl D,
Wong S,
Griffiths W,
Smithson S,
Giffin N,
Taha A,
Connolly S,
Gillett GT,
Tanner S,
Bonham J,
Sharrack B,
Palotie A,
Rattray M,
Dalton A,
Bandmann O
Brain
2013 May;136(Pt 5):1476-87.
Epub 2013 Mar 21
doi: 10.1093/brain/awt035.
PMID: 23518715Free PMC Article
Eriksson M,
Brown WT,
Gordon LB,
Glynn MW,
Singer J,
Scott L,
Erdos MR,
Robbins CM,
Moses TY,
Berglund P,
Dutra A,
Pak E,
Durkin S,
Csoka AB,
Boehnke M,
Glover TW,
Collins FS
Nature
2003 May 15;423(6937):293-8.
Epub 2003 Apr 25
doi: 10.1038/nature01629.
PMID: 12714972Free PMC Article