Results 111 to 120 of about 29,741 (152)

Living with adrenoleukodystrophy: adult patient and caregiver perspectives. [PDF]

Orphanet J Rare Dis
Fine AS, Sullivan-Fortin KO, Miettunen K, Emerson F, Sadjadi R, Fatemi A, Eichler F.   +6 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

Nervonic acid supplementation mitigates disease severity biomarkers in adrenoleukodystrophy. [PDF]

Neurotherapeutics
Li C, Braaten K, Moser AB, Fallatah W, Lorentson M, Huguenin S, Torrey A, Terluk MR, Durose W, Nolan E, Staley C, Subramanian S, Lund TC, Kartha RV.   +13 more
europepmc   +1 more source

A comprehensive discovery platform for ELOVL1 small-molecule inhibitors targeting very long-chain fatty acid synthesis in adrenoleukodystrophy. [PDF]

J Biol Chem
Holley S, Asmussen G, Lam B, Zhao Z, Freed B, Guo L, Dostalova Z, Tang B, Kothe M, Lang P, Wang D, Hanus M, Belenky A, Cromwell M, Kloss A, Gladysheva T.   +15 more
europepmc   +1 more source

Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis. [PDF]

Cureus
Sequeira S, Costa A, Vargas M, Velon A.
europepmc   +1 more source

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype. [PDF]

Commun Biol
Manor J, Jangam SV, Chung HL, Bhagwat P, Andrews JC, Chester H, Kondo S, Srivastav S, Botas J, Moser AB, Huguenin SM, Wangler MF.   +11 more
europepmc   +1 more source

Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy. [PDF]

J Biol Chem
Kloss A, Parisi L, Wang D, Hanus M, Golden R, Keefe K, Chiang R, Li Y, Brezzani A, Lang P, Kayatekin C, Gladysheva T.   +11 more
europepmc   +1 more source

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
van de Stadt SIW, Wessel AMA, Langeveld M, Engelen M, Sjouke B.   +4 more
europepmc   +1 more source

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lier J, Ponleitner M, Popp D, Schäfer L, Küstermann F, Meigen C, Kratzer F, Janda J, Okun J, Jamra RA, Köhler W, Bergner C.   +11 more
europepmc   +1 more source

Recognizing Cerebral Pathology in Adrenoleukodystrophy Amid the Noise. [PDF]

Neurology
Pierpont EI.
europepmc   +1 more source