Results 81 to 90 of about 4,802 (174)

Considerations Regarding the Family Members in the Management of Patients with Familiar Hypercholesterolemia. [PDF]

J Orthop Case Rep
Kotani K.
europepmc   +1 more source

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 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

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

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

Xanthomatosis [PDF]

Proceedings of the Royal Society of Medicine, 1947
C. P. Petch, D.M. Wesselow
openaire   +1 more source

Vitiligo-associated jejunal xanthomatosis leading to small bowel obstruction. [PDF]

Ann Med Surg (Lond)
Jha R, Sah BC, Maharjan N, Aryal S, Shrestha S, Banepali N.   +5 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving <i>CYP27A1(C.526del)</i>. [PDF]

JCEM Case Rep
Roy A, Roy SK, Das S.
europepmc   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 more
europepmc   +1 more source