Management of CLN1 Disease: International Clinical Consensus

Erika F. Augustine; Heather R. Adams; Emily de los Reyes; Kristen Drago; Margie Frazier; Norberto Guelbert; Minna Laine; Tanya Levin; Jonathan W. Mink; Miriam Nickel; Danielle Peifer; Angela Schulz; Alessandro Simonati; Meral Topcu; Joni A. Turunen; Ruth Williams; Elaine C. Wirrell; Sharon King

doi:10.1016/j.pediatrneurol.2021.04.002

Management of CLN1 Disease: International Clinical Consensus

Erika F. Augustine, Heather R. Adams, Emily de los Reyes, Kristen Drago, Margie Frazier, Norberto Guelbert, Minna Laine, Tanya Levin, Jonathan W. Mink, Miriam Nickel, Danielle Peifer, Angela Schulz, Alessandro Simonati, Meral Topcu, Joni A. Turunen, Ruth Williams, Elaine C. Wirrell, Sharon King

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Pediatric Neurology
Volym	120
Sidor (från-till)	38-51
Antal sidor	14
ISSN	0887-8994
DOI	https://doi.org/10.1016/j.pediatrneurol.2021.04.002
Status	Publicerad - juli 2021
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper
3124 Neurologi och psykiatri
3123 Kvinno- och barnsjukdomar

Åtkomst av dokument

10.1016/j.pediatrneurol.2021.04.002

PIIS0887899421000692Slutlig publicerad version, 816 KBLicens: CC BY

Citera det här

Augustine, E. F., Adams, H. R., de los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C., & King, S. (2021). Management of CLN1 Disease: International Clinical Consensus. Pediatric Neurology, 120, 38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002

@article{59674a327e29462bbf34e03f4e8859ba,

title = "Management of CLN1 Disease: International Clinical Consensus",

keywords = "Infantile neuronal ceroid lipofuscinosis, Clinical care, Rare disease, Palmitoyl-protein thioesterase 1, PPT1, Drug-resistant epilepsy, Lysosomal storage disease, Palliative care, NEURONAL CEROID-LIPOFUSCINOSIS, PROTEIN THIOESTERASE DEFICIENCY, STEM-CELL TRANSPLANTATION, INFANTILE TYPE, SLEEP DISORDERS, CHILDREN, MUTATIONS, BRAIN, GENE, FORMS, 3112 Neurosciences, 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics",

author = "Augustine, {Erika F.} and Adams, {Heather R.} and {de los Reyes}, Emily and Kristen Drago and Margie Frazier and Norberto Guelbert and Minna Laine and Tanya Levin and Mink, {Jonathan W.} and Miriam Nickel and Danielle Peifer and Angela Schulz and Alessandro Simonati and Meral Topcu and Turunen, {Joni A.} and Ruth Williams and Wirrell, {Elaine C.} and Sharon King",

year = "2021",

month = jul,

doi = "10.1016/j.pediatrneurol.2021.04.002",

language = "English",

volume = "120",

pages = "38--51",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Scientific Publ. Co",

}

Augustine, EF, Adams, HR, de los Reyes, E, Drago, K, Frazier, M, Guelbert, N, Laine, M, Levin, T, Mink, JW, Nickel, M, Peifer, D, Schulz, A, Simonati, A, Topcu, M, Turunen, JA, Williams, R, Wirrell, EC & King, S 2021, 'Management of CLN1 Disease: International Clinical Consensus', Pediatric Neurology, vol. 120, s. 38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002

TY - JOUR

T1 - Management of CLN1 Disease

T2 - International Clinical Consensus

AU - Augustine, Erika F.

AU - Adams, Heather R.

AU - de los Reyes, Emily

AU - Drago, Kristen

AU - Frazier, Margie

AU - Guelbert, Norberto

AU - Laine, Minna

AU - Levin, Tanya

AU - Mink, Jonathan W.

AU - Nickel, Miriam

AU - Peifer, Danielle

AU - Schulz, Angela

AU - Simonati, Alessandro

AU - Topcu, Meral

AU - Turunen, Joni A.

AU - Williams, Ruth

AU - Wirrell, Elaine C.

AU - King, Sharon

PY - 2021/7

Y1 - 2021/7

KW - Infantile neuronal ceroid lipofuscinosis

KW - Clinical care

KW - Rare disease

KW - Palmitoyl-protein thioesterase 1

KW - PPT1

KW - Drug-resistant epilepsy

KW - Lysosomal storage disease

KW - Palliative care

KW - NEURONAL CEROID-LIPOFUSCINOSIS

KW - PROTEIN THIOESTERASE DEFICIENCY

KW - STEM-CELL TRANSPLANTATION

KW - INFANTILE TYPE

KW - SLEEP DISORDERS

KW - CHILDREN

KW - MUTATIONS

KW - BRAIN

KW - GENE

KW - FORMS

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 3123 Gynaecology and paediatrics

U2 - 10.1016/j.pediatrneurol.2021.04.002

DO - 10.1016/j.pediatrneurol.2021.04.002

M3 - Article

SN - 0887-8994

VL - 120

SP - 38

EP - 51

JO - Pediatric Neurology

JF - Pediatric Neurology

ER -