Value of bronchoalveolar lavage in lipidoses with pulmonary involvement.
L. Tabak +4 more
semanticscholar +1 more source
Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]
Oyama Y +5 more
europepmc +1 more source
Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]
Ghonaimat RA +3 more
europepmc +1 more source
A histochemical study of various forms of cerebral lipidoses
M. Wolman
semanticscholar +1 more source
Cerebrotendinous xanthomatosis: a treatable hereditary neuro‐metabolic disease [PDF]
Bezerra, Jose Marcelo Ferreira +2 more
core +4 more sources
Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]
Banach-Petrosky W +10 more
europepmc +1 more source
Book Review: Cerebral Lipidoses [PDF]
openaire +1 more source
Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc +1 more source
Renal Lipidosis in Horses and Donkeys: 25 Cases (2008-2022). [PDF]
Slavik K +3 more
europepmc +1 more source

