Etiology
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Longo N
Ann Nutr Metab
2016;68 Suppl 3:5-9.
Epub 2016 Dec 9
doi: 10.1159/000448321.
PMID: 27931018
Wagner GR,
Pride PM,
Babbey CM,
Payne RM
Hum Mol Genet
2012 Jun 15;21(12):2688-97.
Epub 2012 Mar 6
doi: 10.1093/hmg/dds095.
PMID: 22394676Free PMC Article
Noland RC,
Koves TR,
Seiler SE,
Lum H,
Lust RM,
Ilkayeva O,
Stevens RD,
Hegardt FG,
Muoio DM
J Biol Chem
2009 Aug 21;284(34):22840-52.
Epub 2009 Jun 24
doi: 10.1074/jbc.M109.032888.
PMID: 19553674Free PMC Article
Gregersen N
J Inherit Metab Dis
1985;8 Suppl 1:65-9.
doi: 10.1007/BF01800662.
PMID: 3930843
Diagnosis
Almannai M,
Alfadhel M,
El-Hattab AW
Molecules
2019 Sep 6;24(18)
doi: 10.3390/molecules24183251.
PMID: 31500110Free PMC Article
Scheidecker S,
Bär S,
Stoetzel C,
Geoffroy V,
Lannes B,
Rinaldi B,
Fischer F,
Becker HD,
Pelletier V,
Pagan C,
Acquaviva-Bourdain C,
Kremer S,
Mirande M,
Tranchant C,
Muller J,
Friant S,
Dollfus H
Hum Mutat
2019 Oct;40(10):1826-1840.
Epub 2019 Jun 18
doi: 10.1002/humu.23799.
PMID: 31116475
Rajasekaran R,
Felser A,
Nuoffer JM,
Dufour JF,
St-Pierre MV
FASEB J
2018 Sep;32(9):5143-5161.
Epub 2018 Apr 18
doi: 10.1096/fj.201701429R.
PMID: 29913563
Longo N
Ann Nutr Metab
2016;68 Suppl 3:5-9.
Epub 2016 Dec 9
doi: 10.1159/000448321.
PMID: 27931018
Lee CF,
Chavez JD,
Garcia-Menendez L,
Choi Y,
Roe ND,
Chiao YA,
Edgar JS,
Goo YA,
Goodlett DR,
Bruce JE,
Tian R
Circulation
2016 Sep 20;134(12):883-94.
Epub 2016 Aug 3
doi: 10.1161/CIRCULATIONAHA.116.022495.
PMID: 27489254Free PMC Article
Therapy
Longo N
Ann Nutr Metab
2016;68 Suppl 3:5-9.
Epub 2016 Dec 9
doi: 10.1159/000448321.
PMID: 27931018
Pekala J,
Patkowska-Sokoła B,
Bodkowski R,
Jamroz D,
Nowakowski P,
Lochyński S,
Librowski T
Curr Drug Metab
2011 Sep;12(7):667-78.
doi: 10.2174/138920011796504536.
PMID: 21561431
Stanley CA
Ann N Y Acad Sci
2004 Nov;1033:42-51.
doi: 10.1196/annals.1320.004.
PMID: 15591002
Gregersen N
J Inherit Metab Dis
1985;8 Suppl 1:65-9.
doi: 10.1007/BF01800662.
PMID: 3930843
Gilbert EF
Pathology
1985 Apr;17(2):161-71.
doi: 10.3109/00313028509063752.
PMID: 3900894
Prognosis
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Longo N
Ann Nutr Metab
2016;68 Suppl 3:5-9.
Epub 2016 Dec 9
doi: 10.1159/000448321.
PMID: 27931018
Noland RC,
Koves TR,
Seiler SE,
Lum H,
Lust RM,
Ilkayeva O,
Stevens RD,
Hegardt FG,
Muoio DM
J Biol Chem
2009 Aug 21;284(34):22840-52.
Epub 2009 Jun 24
doi: 10.1074/jbc.M109.032888.
PMID: 19553674Free PMC Article
Laforêt P,
Lombès A,
Eymard B,
Danan C,
Chevallay M,
Rouche A,
Frachon P,
Fardeau M
Neuromuscul Disord
1995 Sep;5(5):399-413.
doi: 10.1016/0960-8966(94)00080-s.
PMID: 7496174
Clinical prediction guides
Guhathakurta S,
Erdogdu NU,
Hoffmann JJ,
Grzadzielewska I,
Schendzielorz A,
Seyfferth J,
Mårtensson CU,
Corrado M,
Karoutas A,
Warscheid B,
Pfanner N,
Becker T,
Akhtar A
Nat Metab
2023 Nov;5(11):1931-1952.
Epub 2023 Oct 9
doi: 10.1038/s42255-023-00904-w.
PMID: 37813994Free PMC Article
Cogné B,
Ehresmann S,
Beauregard-Lacroix E,
Rousseau J,
Besnard T,
Garcia T,
Petrovski S,
Avni S,
McWalter K,
Blackburn PR,
Sanders SJ,
Uguen K,
Harris J,
Cohen JS,
Blyth M,
Lehman A,
Berg J,
Li MH,
Kini U,
Joss S,
von der Lippe C,
Gordon CT,
Humberson JB,
Robak L,
Scott DA,
Sutton VR,
Skraban CM,
Johnston JJ,
Poduri A,
Nordenskjöld M,
Shashi V,
Gerkes EH,
Bongers EMHF,
Gilissen C,
Zarate YA,
Kvarnung M,
Lally KP,
Kulch PA,
Daniels B,
Hernandez-Garcia A,
Stong N,
McGaughran J,
Retterer K,
Tveten K,
Sullivan J,
Geisheker MR,
Stray-Pedersen A,
Tarpinian JM,
Klee EW,
Sapp JC,
Zyskind J,
Holla ØL,
Bedoukian E,
Filippini F,
Guimier A,
Picard A,
Busk ØL,
Punetha J,
Pfundt R,
Lindstrand A,
Nordgren A,
Kalb F,
Desai M,
Ebanks AH,
Jhangiani SN,
Dewan T,
Coban Akdemir ZH,
Telegrafi A,
Zackai EH,
Begtrup A,
Song X,
Toutain A,
Wentzensen IM,
Odent S,
Bonneau D,
Latypova X,
Deb W;
CAUSES Study,
Redon S,
Bilan F,
Legendre M,
Troyer C,
Whitlock K,
Caluseriu O,
Murphree MI,
Pichurin PN,
Agre K,
Gavrilova R,
Rinne T,
Park M,
Shain C,
Heinzen EL,
Xiao R,
Amiel J,
Lyonnet S,
Isidor B,
Biesecker LG,
Lowenstein D,
Posey JE,
Denommé-Pichon AS;
Deciphering Developmental Disorders study,
Férec C,
Yang XJ,
Rosenfeld JA,
Gilbert-Dussardier B,
Audebert-Bellanger S,
Redon R,
Stessman HAF,
Nellaker C,
Yang Y,
Lupski JR,
Goldstein DB,
Eichler EE,
Bolduc F,
Bézieau S,
Küry S,
Campeau PM
Am J Hum Genet
2019 Mar 7;104(3):530-541.
Epub 2019 Feb 28
doi: 10.1016/j.ajhg.2019.01.010.
PMID: 30827496Free PMC Article
Zhang Y,
Bharathi SS,
Rardin MJ,
Lu J,
Maringer KV,
Sims-Lucas S,
Prochownik EV,
Gibson BW,
Goetzman ES
J Biol Chem
2017 Jun 16;292(24):10239-10249.
Epub 2017 Apr 30
doi: 10.1074/jbc.M117.785022.
PMID: 28458255Free PMC Article
Lee CF,
Chavez JD,
Garcia-Menendez L,
Choi Y,
Roe ND,
Chiao YA,
Edgar JS,
Goo YA,
Goodlett DR,
Bruce JE,
Tian R
Circulation
2016 Sep 20;134(12):883-94.
Epub 2016 Aug 3
doi: 10.1161/CIRCULATIONAHA.116.022495.
PMID: 27489254Free PMC Article
Noland RC,
Koves TR,
Seiler SE,
Lum H,
Lust RM,
Ilkayeva O,
Stevens RD,
Hegardt FG,
Muoio DM
J Biol Chem
2009 Aug 21;284(34):22840-52.
Epub 2009 Jun 24
doi: 10.1074/jbc.M109.032888.
PMID: 19553674Free PMC Article