14 results on '"Carnicer-Caceres, Clara"'
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2. Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital
3. Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology
4. Evaluation of a Liquid Chromatography–Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson's Disease Patients.
5. Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies
6. Value of urinary levels of interleukin-6, epidermal growth factor, monocyte chemoattractant protein type 1 and transforming growth factor β1 in predicting the extent of fibrosis lesions in kidney biopsies of patients with IgA nephropathy
7. Valor de los niveles urinarios de interleucina 6, factor de crecimiento epidérmico, proteína quimioatractante de monocitos de tipo 1 y factor de crecimiento transformante β1 para la predicción de la extensión de las lesiones de fibrosis en biopsias de enfermos con nefropatía IgA
8. Study of the variables associated with local complement activation in IgA nephropathy
9. Estudio de las variables asociadas a la activación local del complemento en la nefropatía IgA idiopática
10. Bone disease in eliglustat treated Gaucher disease type 1 patients: A real-world experience in a tertiary referral hospital
11. Clinical features, course and prognosis of idiopathic membranous nephropathy depending on the presence of antibodies against M-type phospholipase A2 receptor
12. Características clínicas, evolución y pronóstico de la nefropatía membranosa idiopática en función de la presencia de anticuerpos contra el receptor tipo M de la fosfolipasa A2
13. Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital
14. Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants – Response
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