Etiology
Huemer M
J Mother Child
2020 Oct 2;24(2):39-46.
doi: 10.34763/jmotherandchild.20202402si.2016.000007.
PMID: 33179601Free PMC Article
Saito M,
Marumo K
Curr Osteoporos Rep
2018 Oct;16(5):554-560.
doi: 10.1007/s11914-018-0469-1.
PMID: 30116976
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
Levin BL,
Varga E
J Genet Couns
2016 Oct;25(5):901-11.
Epub 2016 Apr 30
doi: 10.1007/s10897-016-9956-7.
PMID: 27130656
Schiff M,
Blom HJ
Neuropediatrics
2012 Dec;43(6):295-304.
Epub 2012 Nov 2
doi: 10.1055/s-0032-1329883.
PMID: 23124942
Diagnosis
Huemer M
J Mother Child
2020 Oct 2;24(2):39-46.
doi: 10.34763/jmotherandchild.20202402si.2016.000007.
PMID: 33179601Free PMC Article
Kaur R,
Correa ARE,
Thakur S,
Kabra M,
Gupta N
Indian J Pediatr
2020 Nov;87(11):951-953.
Epub 2020 May 26
doi: 10.1007/s12098-020-03290-3.
PMID: 32451826
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
Huemer M,
Diodato D,
Schwahn B,
Schiff M,
Bandeira A,
Benoist JF,
Burlina A,
Cerone R,
Couce ML,
Garcia-Cazorla A,
la Marca G,
Pasquini E,
Vilarinho L,
Weisfeld-Adams JD,
Kožich V,
Blom H,
Baumgartner MR,
Dionisi-Vici C
J Inherit Metab Dis
2017 Jan;40(1):21-48.
Epub 2016 Nov 30
doi: 10.1007/s10545-016-9991-4.
PMID: 27905001Free PMC Article
Burda P,
Schäfer A,
Suormala T,
Rummel T,
Bürer C,
Heuberger D,
Frapolli M,
Giunta C,
Sokolová J,
Vlášková H,
Kožich V,
Koch HG,
Fowler B,
Froese DS,
Baumgartner MR
Hum Mutat
2015 Jun;36(6):611-21.
Epub 2015 Apr 27
doi: 10.1002/humu.22779.
PMID: 25736335
Therapy
Mütze U,
Gleich F,
Garbade SF,
Plisson C,
Aldámiz-Echevarría L,
Arrieta F,
Ballhausen D,
Zielonka M,
Petković Ramadža D,
Baumgartner MR,
Cano A,
García Jiménez MC,
Dionisi-Vici C,
Ješina P,
Blom HJ,
Couce ML,
Meavilla Olivas S,
Mention K,
Mochel F,
Morris AAM,
Mundy H,
Redonnet-Vernhet I,
Santra S,
Schiff M,
Servais A,
Vitoria I,
Huemer M,
Kožich V,
Kölker S
J Inherit Metab Dis
2022 Jul;45(4):719-733.
Epub 2022 Apr 6
doi: 10.1002/jimd.12499.
PMID: 35358327
Post RM,
Yatham LN,
Vieta E,
Berk M,
Nierenberg AA
Bipolar Disord
2019 Nov;21(7):650-659.
Epub 2019 Aug 19
doi: 10.1111/bdi.12813.
PMID: 31343802Free PMC Article
Chaudhary A,
Desai U,
Joshi JM
Natl Med J India
2017 May-Jun;30(3):139-141.
PMID: 28936998
Huemer M,
Diodato D,
Schwahn B,
Schiff M,
Bandeira A,
Benoist JF,
Burlina A,
Cerone R,
Couce ML,
Garcia-Cazorla A,
la Marca G,
Pasquini E,
Vilarinho L,
Weisfeld-Adams JD,
Kožich V,
Blom H,
Baumgartner MR,
Dionisi-Vici C
J Inherit Metab Dis
2017 Jan;40(1):21-48.
Epub 2016 Nov 30
doi: 10.1007/s10545-016-9991-4.
PMID: 27905001Free PMC Article
Schiff M,
Blom HJ
Neuropediatrics
2012 Dec;43(6):295-304.
Epub 2012 Nov 2
doi: 10.1055/s-0032-1329883.
PMID: 23124942
Prognosis
Yverneau M,
Leroux S,
Imbard A,
Gleich F,
Arion A,
Moreau C,
Nassogne MC,
Szymanowski M,
Tardieu M,
Touati G,
Bueno M,
Chapman KA,
Chien YH,
Huemer M,
Ješina P,
Janssen MCH,
Kölker S,
Kožich V,
Lavigne C,
Lund AM,
Mochel F,
Morris A,
Pons MR,
Porras-Hurtado GL,
Benoist JF,
Damaj L,
Schiff M;
E-HOD Consortium
J Inherit Metab Dis
2022 Jul;45(4):848-861.
Epub 2022 May 9
doi: 10.1002/jimd.12504.
PMID: 35460084
Savojardo C,
Babbi G,
Baldazzi D,
Martelli PL,
Casadio R
Int J Mol Sci
2021 Dec 23;23(1)
doi: 10.3390/ijms23010167.
PMID: 35008593Free PMC Article
Marelli C,
Lavigne C,
Stepien KM,
Janssen MCH,
Feillet F,
Kožich V,
Jesina P,
Schule R,
Kessler C,
Redonnet-Vernhet I,
Regnier A,
Burda P,
Baumgartner M,
Benoist JF,
Huemer M,
Mochel F;
E-HOD Consortium
J Inherit Metab Dis
2021 May;44(3):777-786.
Epub 2020 Nov 2
doi: 10.1002/jimd.12323.
PMID: 33089527
Huemer M,
Diodato D,
Martinelli D,
Olivieri G,
Blom H,
Gleich F,
Kölker S,
Kožich V,
Morris AA,
Seifert B,
Froese DS,
Baumgartner MR,
Dionisi-Vici C;
EHOD consortium,
Martin CA,
Baethmann M,
Ballhausen D,
Blasco-Alonso J,
Boy N,
Bueno M,
Burgos Peláez R,
Cerone R,
Chabrol B,
Chapman KA,
Couce ML,
Crushell E,
Dalmau Serra J,
Diogo L,
Ficicioglu C,
García Jimenez MC,
García Silva MT,
Gaspar AM,
Gautschi M,
González-Lamuño D,
Gouveia S,
Grünewald S,
Hendriksz C,
Janssen MCH,
Jesina P,
Koch J,
Konstantopoulou V,
Lavigne C,
Lund AM,
Martins EG,
Meavilla Olivas S,
Mention K,
Mochel F,
Mundy H,
Murphy E,
Paquay S,
Pedrón-Giner C,
Ruiz Gómez MA,
Santra S,
Schiff M,
Schwartz IV,
Scholl-Bürgi S,
Servais A,
Skouma A,
Tran C,
Vives Piñera I,
Walter J,
Weisfeld-Adams J
J Inherit Metab Dis
2019 Mar;42(2):333-352.
Epub 2019 Feb 17
doi: 10.1002/jimd.12041.
PMID: 30773687
Prasad AN,
Rupar CA,
Prasad C
Brain Dev
2011 Oct;33(9):758-69.
Epub 2011 Jul 22
doi: 10.1016/j.braindev.2011.05.014.
PMID: 21778025
Clinical prediction guides
Reischl-Hajiabadi AT,
Schnabel E,
Gleich F,
Mengler K,
Lindner M,
Burgard P,
Posset R,
Lommer-Steinhoff S,
Grünert SC,
Thimm E,
Freisinger P,
Hennermann JB,
Krämer J,
Gramer G,
Lenz D,
Christ S,
Hörster F,
Hoffmann GF,
Garbade SF,
Kölker S,
Mütze U
J Inherit Metab Dis
2024 Jul;47(4):674-689.
Epub 2024 Apr 2
doi: 10.1002/jimd.12731.
PMID: 38563533
Yverneau M,
Leroux S,
Imbard A,
Gleich F,
Arion A,
Moreau C,
Nassogne MC,
Szymanowski M,
Tardieu M,
Touati G,
Bueno M,
Chapman KA,
Chien YH,
Huemer M,
Ješina P,
Janssen MCH,
Kölker S,
Kožich V,
Lavigne C,
Lund AM,
Mochel F,
Morris A,
Pons MR,
Porras-Hurtado GL,
Benoist JF,
Damaj L,
Schiff M;
E-HOD Consortium
J Inherit Metab Dis
2022 Jul;45(4):848-861.
Epub 2022 May 9
doi: 10.1002/jimd.12504.
PMID: 35460084
Savojardo C,
Babbi G,
Baldazzi D,
Martelli PL,
Casadio R
Int J Mol Sci
2021 Dec 23;23(1)
doi: 10.3390/ijms23010167.
PMID: 35008593Free PMC Article
Weile J,
Kishore N,
Sun S,
Maaieh R,
Verby M,
Li R,
Fotiadou I,
Kitaygorodsky J,
Wu Y,
Holenstein A,
Bürer C,
Blomgren L,
Yang S,
Nussbaum R,
Rozen R,
Watkins D,
Gebbia M,
Kozich V,
Garton M,
Froese DS,
Roth FP
Am J Hum Genet
2021 Jul 1;108(7):1283-1300.
doi: 10.1016/j.ajhg.2021.05.009.
PMID: 34214447Free PMC Article
Bakker RC,
Brandjes DP
Pharm World Sci
1997 Jun;19(3):126-32.
doi: 10.1023/a:1008634632501.
PMID: 9259028