Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krageloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Moron, Dolores Gonzalez; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel

dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Synofzik, Matthis
dc.date.accessioned	2021-09-06T13:47:47Z
dc.date.available	2021-09-06T13:47:47Z
dc.date.issued	2021
dc.identifier.issn	1945-7197
dc.identifier.uri	http://hdl.handle.net/10900/118636
dc.language.iso	en	de_DE
dc.publisher	Endocrine Soc	de_DE
dc.relation.uri	http://dx.doi.org/10.1210/clinem/dgaa700	de_DE
dc.subject.ddc	610	de_DE
dc.title	Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210512015105_00902
utue.publikation.seiten	E660-E674	de_DE
utue.personen.roh	Pelletier, Felixe
utue.personen.roh	Perrier, Stefanie
utue.personen.roh	Cayami, Ferdy K.
utue.personen.roh	Mirchi, Amytice
utue.personen.roh	Saikali, Stephan
utue.personen.roh	Tran, Luan T.
utue.personen.roh	Ulrick, Nicole
utue.personen.roh	Guerrero, Kether
utue.personen.roh	Rampakakis, Emmanouil
utue.personen.roh	van Spaendonk, Rosalina M. L.
utue.personen.roh	Naidu, Sakkubai
utue.personen.roh	Pohl, Daniela
utue.personen.roh	Gibson, William T.
utue.personen.roh	Demos, Michelle
utue.personen.roh	Goizet, Cyril
utue.personen.roh	Tejera-Martin, Ingrid
utue.personen.roh	Potic, Ana
utue.personen.roh	Fogel, Brent L.
utue.personen.roh	Brais, Bernard
utue.personen.roh	Sylvain, Michel
utue.personen.roh	Sebire, Guillaume
utue.personen.roh	Lourenco, Charles Marques
utue.personen.roh	Bonkowsky, Joshua L.
utue.personen.roh	Catsman-Berrevoets, Coriene
utue.personen.roh	Pinto, Pedro S.
utue.personen.roh	Tirupathi, Sandya
utue.personen.roh	Stromme, Petter
utue.personen.roh	de Grauw, Ton
utue.personen.roh	Gieruszczak-Bialek, Dorota
utue.personen.roh	Krageloh-Mann, Ingeborg
utue.personen.roh	Mierzewska, Hanna
utue.personen.roh	Philippi, Heike
utue.personen.roh	Rankin, Julia
utue.personen.roh	Atik, Tahir
utue.personen.roh	Banwell, Brenda
utue.personen.roh	Benko, William S.
utue.personen.roh	Blaschek, Astrid
utue.personen.roh	Bley, Annette
utue.personen.roh	Boltshauser, Eugen
utue.personen.roh	Bratkovic, Drago
utue.personen.roh	Brozova, Klara
utue.personen.roh	Cimas, Iciar
utue.personen.roh	Clough, Christopher
utue.personen.roh	Corenblum, Bernard
utue.personen.roh	Dinopoulos, Argirios
utue.personen.roh	Dolan, Gail
utue.personen.roh	Faletra, Flavio
utue.personen.roh	Fernandez, Raymond
utue.personen.roh	Fletcher, Janice
utue.personen.roh	Garcia, Maria Eugenia Garcia
utue.personen.roh	Gasparini, Paolo
utue.personen.roh	Gburek-Augustat, Janina
utue.personen.roh	Moron, Dolores Gonzalez
utue.personen.roh	Hamati, Aline
utue.personen.roh	Harting, Inga
utue.personen.roh	Hertzberg, Christoph
utue.personen.roh	Hill, Alan
utue.personen.roh	Hobson, Grace M.
utue.personen.roh	Innes, A. Micheil
utue.personen.roh	Kauffman, Marcelo
utue.personen.roh	Kirwin, Susan M.
utue.personen.roh	Kluger, Gerhard
utue.personen.roh	Kolditz, Petra
utue.personen.roh	Kotzaeridou, Urania
utue.personen.roh	La Piana, Roberta
utue.personen.roh	Liston, Eriskay
utue.personen.roh	McClintock, William
utue.personen.roh	McEntagart, Meriel
utue.personen.roh	McKenzie, Fiona
utue.personen.roh	Melancon, Serge
utue.personen.roh	Misbahuddin, Anjum
utue.personen.roh	Suri, Mohnish
utue.personen.roh	Monton, Fernando, I
utue.personen.roh	Moutton, Sebastien
utue.personen.roh	Murphy, Raymond P. J.
utue.personen.roh	Nickel, Miriam
utue.personen.roh	Onay, Huseyin
utue.personen.roh	Orcesi, Simona
utue.personen.roh	Ozkinay, Ferda
utue.personen.roh	Patzer, Steffi
utue.personen.roh	Pedro, Helio
utue.personen.roh	Pekic, Sandra
utue.personen.roh	Marfa, Mercedes Pineda
utue.personen.roh	Pizzino, Amy
utue.personen.roh	Plecko, Barbara
utue.personen.roh	Poll-The, Bwee Tien
utue.personen.roh	Popovic, Vera
utue.personen.roh	Rating, Dietz
utue.personen.roh	Rioux, Marie-France
utue.personen.roh	Espinosa, Norberto Rodriguez
utue.personen.roh	Ronan, Anne
utue.personen.roh	Ostergaard, John R.
utue.personen.roh	Rossignol, Elsa
utue.personen.roh	Sanchez-Carpintero, Rocio
utue.personen.roh	Schossig, Anna
utue.personen.roh	Senbil, Nesrin
utue.personen.roh	Roos, Laura K. Sonderberg
utue.personen.roh	Stevens, Cathy A.
utue.personen.roh	Synofzik, Matthis
utue.personen.roh	Sztriha, Laszlo
utue.personen.roh	Tibussek, Daniel
dcterms.isPartOf.ZSTitelID	Journal of Clinical Endocrinology & Metabolism	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	106	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE