[Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia]

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Folia biologica·2018

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Clinical genetics·2017

RGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer's disease: genome-wide transcriptomic profiling and bioinformatics data mining.

Translational psychiatry·2016

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Folia biologica·2016

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.

Folia biologica·2016

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.

Folia biologica·2016

Pharmacological profile of mepolizumab.

Vnitrni lekarstvi·2023

Atypical form of Goodpasture's disease.

Vnitrni lekarstvi·2023

Differentiated thyroid cancer - possible risks of treatment, suppressive therapy and adherence to current recommendations.

Vnitrni lekarstvi·2023

Dyslipidemia - the known unknown.

Vnitrni lekarstvi·2023

Internal comorbidities and complications of multiple sclerosis therapy - don't be caught off guard!

Vnitrni lekarstvi·2023

Implications of highly suppressive treatment HIV infection.

Vnitrni lekarstvi·2023

Eiken syndrome presenting as pseudohypoparathyroidism due to PTH1R gene pathogenic variant.

JCEM case reports·2026

Diagnostic challenges in primary aldosteronism evaluation and finerenone use.

Journal of medical case reports·2026

An Unexpected Cause of Severe Steatohepatitis in a Young Male.

Gastroenterology·2026

High metanephrines with adrenal hemorrhage: a diagnostic dilemma.

JCEM case reports·2026

Timepoint-Specific Percentile Reference Curves for C-Reactive Protein and Erythrocyte Sedimentation Rate After Uncomplicated Primary Reverse Shoulder Arthroplasty: A Single-Center Cohort Study.

Diagnostics (Basel, Switzerland)·2026

Facts Do Not Organise Themselves: Whewell and the Conceptual Crisis in Medicine.

Journal of evaluation in clinical practice·2026

Related Experiment Videos

[Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia]

Related Concept Videos

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

RGS2 expression predicts amyloid-β sensitivity, MCI and Alzheimer's disease: genome-wide transcriptomic profiling and bioinformatics data mining.

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.

A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.

Pharmacological profile of mepolizumab.

Atypical form of Goodpasture's disease.

Differentiated thyroid cancer - possible risks of treatment, suppressive therapy and adherence to current recommendations.

Dyslipidemia - the known unknown.

Internal comorbidities and complications of multiple sclerosis therapy - don't be caught off guard!

Implications of highly suppressive treatment HIV infection.

Eiken syndrome presenting as pseudohypoparathyroidism due to PTH1R gene pathogenic variant.

Diagnostic challenges in primary aldosteronism evaluation and finerenone use.

An Unexpected Cause of Severe Steatohepatitis in a Young Male.

High metanephrines with adrenal hemorrhage: a diagnostic dilemma.

Timepoint-Specific Percentile Reference Curves for C-Reactive Protein and Erythrocyte Sedimentation Rate After Uncomplicated Primary Reverse Shoulder Arthroplasty: A Single-Center Cohort Study.

Facts Do Not Organise Themselves: Whewell and the Conceptual Crisis in Medicine.

Related Experiment Videos

[Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia]

Related Concept Videos

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