Results 121 to 130 of about 3,353 (190)

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

Phosphatidylcholine with C26:0 moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2. [PDF]

J Lipid Res
Hama K, Fujiwara Y, Imai K, Kusakabe Y, Hayashi Y, Takashima S, Azuma S, Kondo M, Yamashita A, Takita R, Shimozawa N, Yokoyama K.   +11 more
europepmc   +1 more source

An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy. [PDF]

Int J Mol Sci
Gornostal E, Alsalloum A, Degtyarev E, Kuznetsova E, Levashova A, Mishina D, Mingaleva N, Mazloum A, Bogdanov V, Krupinova J, Mikhalkov S, Rybkina I, Mityaeva O, Volchkov P.   +13 more
europepmc   +1 more source

Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]

Front Pediatr
Zhao L, Zeng L, Yi M, Yuan W.
europepmc   +1 more source

Lenti-D/ABCD1-transduced Autologous Hematopoietic Stem Cells [PDF]

, 2020
openaire   +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

ABCD1 for solid pseudopapillary neoplasms of the pancreas

Journal of Pancreatology
openaire   +2 more sources

Molecular mechanism of substrate transport by human peroxisomal ABCD3. [PDF]

Proc Natl Acad Sci U S A
Gupta M, Khandelwal NK, Seka DJ, Balasubramani SG, Dickinson MS, Myasnikov A, Echeverria I, Stroud RM.   +7 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

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