Results 101 to 110 of about 7,234,150 (180)

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

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

Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy". [PDF]

JCEM Case Rep
Erdoğan Özbuğday H, Karakurt F.
europepmc   +1 more source

X-linked adrenoleukodystrophy

, 2014
Jared Narvid, Kristen W. Yeom
openaire   +2 more sources

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

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

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

X-linked adrenoleukodystrophy

, 2021
openaire   +1 more source

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +1 more source

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source