Results 111 to 120 of about 1,835 (170)

Subcutaneous nodules on the elbows of a teenager. [PDF]

JAAD Case Rep
Haveric A, Rhein JG, Lee JB, Waseh S, Hsu S, Metkowski AR.   +5 more
europepmc   +1 more source

Development of an improved and greener HPLC-DAD method for the determination of fecal sterols in sediment and water samples using ultrasonic-assisted derivatization with benzoyl isocyanate. [PDF]

RSC Adv
Effting LM, Teixeira Tarley CR.
europepmc   +1 more source

Bildung von Phenylcholestan aus Cholestanol

YAKUGAKU ZASSHI, 1937
openaire   +2 more sources

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]

J Mov Disord
Wang WS, Chiu YP, Tsai MH, Wu SL, Chen YC.   +4 more
europepmc   +1 more source

Characterization of the brain lipidome associated with frontotemporal lobar degeneration MAPT P301S mutation. [PDF]

J Lipid Res
Maroto-Juanes A, Vogels T, Koppes-den Hertog S, Loos M, Lütjohann D, Giera M, van der Kant R.   +6 more
europepmc   +1 more source

Biallelic ABCG8 Variants or Biochemical Evidence of Sitosterolemia: A Case Report. [PDF]

Cureus
Burns J, Zachariah J.
europepmc   +1 more source

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Neurol Int
Hanson J, Bonnen PE.
europepmc   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]

J Inherit Metab Dis
Clayton PT, Hirachan R, Murphy E.
europepmc   +1 more source