Results 81 to 90 of about 13,975 (131)

Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong. [PDF]

Int J Neonatal Screen
Mak CM, Wu HY, Wong AY, Song FE, Chan TCH, Fung CW, Wong SN, Hau EWL, Yeung MCW.   +8 more
europepmc   +1 more source

Reversal of Endogenous Bioelectrical Network Collapse in Advanced Childhood Cerebral X-Linked Adrenoleukodystrophy. [PDF]

Neurol Int
Rinaldi S, Rinaldi A, Fontani V.
europepmc   +1 more source

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort. [PDF]

J Neurol Neurosurg Psychiatry
Benzoni C, Moscatelli M, Lanteri P, Pensato V, Calò C, Allievi S, Gellera C, Ardissone A, Moroni I, Fenu S, Cavalca E, Pareyson D, Salsano E.   +12 more
europepmc   +1 more source

Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder. [PDF]

Neurol Genet
Ayrignac X, Marelli C, Lehmann S, Huiban C, Yska HAF, Labauge P, Le Ber I, Mochel F.   +7 more
europepmc   +1 more source

A Chinese X-Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation-A Case Report and Literature Review. [PDF]

Clin Case Rep
Zhang FQ, Zhang Z, Wang D, Yang Y, Li X.
europepmc   +1 more source

Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy. [PDF]

Commun Med (Lond)
Weinhofer I, Ponleitner M, Rommer P, Bergner CG, Starke S, Gräfe D, Merkenschlager A, Forss-Petter S, Köhler W, Berger J, Kühl JS.   +10 more
europepmc   +1 more source

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. [PDF]

Neurology
Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.   +30 more
europepmc   +1 more source

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X-Linked Adrenoleukodystrophy. [PDF]

CNS Neurosci Ther
Zhou J, Meng W, Zhao W, Shen C.
europepmc   +1 more source

Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy. [PDF]

Brain
Pierpont EI, Gupta AO, Eisengart JB, Shanley R, Evans RO, Loes DJ, Nascene D, Narayanan S, Orchard PJ, Lund TC.   +9 more
europepmc   +1 more source

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source