Results 111 to 120 of about 6,190 (205)

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study. [PDF]

Cerebellum
Camelo-Filho AE, Sá Barreto Lima PLG, da Rosa RF, Miyajima OR, Marcucci MHB, de Oliveira Scott SS, de Arruda Furtado LET, Frota AF, Soares MVR, Macedo DS, Pessoa A, Nóbrega PR, Braga-Neto P.   +12 more
europepmc   +1 more source

Immune-mediated multisystem injury associated with monoclonal gammopathy of clinical significance: a case report. [PDF]

Front Immunol
Jin X, Duan X, Zhang R, Sun Y, Qian M, Li X, Ma D, Li X, Zhang X, Shen M, Zeng X, Xu N, Zhuang J.   +12 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings

, 1994
PURPOSE: To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings.
Caputo, N., Federico, A., Filosomi, G., Guazzi, G. C., Dotti, M. T., Signorini, E., Venturi, C.   +6 more
core  

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. [PDF]

Neurogenetics
Ďurina P, Bandura A, Chandoga J, Juhosová M, Repiský M, Jungová P, Roháľová J, Jarásková D, Pohorelská V, Dallemule S, Mattošová S, Brennerová K, Okaľová K, Bohuniczky I, Böhmer D.   +14 more
europepmc   +1 more source

Genetics of Cerebrotendinous Xanthomatosis. [PDF]

Mol Diagn Ther
Hanson J, Bonnen PE.
europepmc   +1 more source

Periorbital hyperpigmentation as the initial manifestation of smoldering multiple myeloma in a patient with coexisting gastrointestinal stromal tumor: a case report and narrative literature review. [PDF]

Front Oncol
Yang Y, Xu W, Li X, Guo Z.
europepmc   +1 more source

Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia. [PDF]

Front Neurol
Sipma R, Dean M, DeBarber A, Yacoubian T.   +3 more
europepmc   +1 more source

Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge. [PDF]

Am J Prev Cardiol
Matta A, Nader V, Ferrières D, Ferrières J.   +3 more
europepmc   +1 more source

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia. [PDF]

Genes (Basel)
Ferrandino M, Cerrato Y, Iannuzzo G, Calcaterra IL, Di Minno MND, Fortunato G, Di Taranto MD.   +6 more
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source