von Hippel–Lindau disease

P Chittiboina, RR Lonser - Handbook of clinical neurology, 2015 - Elsevier
Abstract von Hippel–Lindau (VHL) disease is an inheritable condition with an incidence of 1
in 36 000 live births. Individuals with VHL develop benign and malignant tumors including …

Laboratory evaluation of pheochromocytoma and paraganglioma

G Eisenhofer, M Peitzsch - Clinical chemistry, 2014 - academic.oup.com
BACKGROUND Pheochromocytomas and paragangliomas (PPGLs) are potentially lethal
yet usually surgically curable causes of endocrine hypertension; therefore, once clinical …

Biochemical Diagnosis of Chromaffin Cell Tumors in Patients at High and Low Risk of Disease: Plasma versus Urinary Free or Deconjugated O-Methylated …

G Eisenhofer, A Prejbisz, M Peitzsch… - Clinical …, 2018 - academic.oup.com
BACKGROUND Measurements of plasma or urinary metanephrines are recommended for
diagnosis of pheochromocytoma and paraganglioma (PPGL). What test offers optimal …

[HTML][HTML] Reference intervals for LC-MS/MS measurements of plasma free, urinary free and urinary acid-hydrolyzed deconjugated normetanephrine, metanephrine and …

G Eisenhofer, M Peitzsch, D Kaden, K Langton… - Clinica chimica acta, 2019 - Elsevier
Background Plasma or urinary metanephrines are recommended for screening of
pheochromocytomas and paragangliomas (PPGLs). Measurements of urinary free rather …

[HTML][HTML] Pheochromocytoma/paraganglioma: recent updates in genetics, biochemistry, immunohistochemistry, metabolomics, imaging and therapeutic options

K Antonio, MMN Valdez, L Mercado-Asis, D Taïeb… - Gland …, 2020 - ncbi.nlm.nih.gov
Pheochromocytomas and paragangliomas (PPGLs), rare chromaffin/neural crest cell tumors,
are commonly benign in their clinical presentation. However, there are a number of cases …

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents

I Jochmanova, AMT Abcede, RJS Guerrero… - Journal of cancer …, 2020 - Springer
Abstract Purpose Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children
with only a few SDHB mutation-related cases. Previous studies on children were conducted …

Pathophysiology and diagnosis of disorders of the adrenal medulla: focus on pheochromocytoma

JWM Lenders, G Eisenhofer - Comprehensive Physiology, 2011 - Wiley Online Library
The principal function of the adrenal medulla is the production and secretion of
catecholamines. During stressful challenging conditions, catecholamines exert a pivotal …

Overnight/first-morning urine free metanephrines and methoxytyramine for diagnosis of pheochromocytoma and paraganglioma: is this an option?

M Peitzsch, D Kaden, C Pamporaki… - European Journal of …, 2020 - academic.oup.com
Objective Sympathoadrenal activity is decreased during overnight rest. This study assessed
whether urinary-free normetanephrine, metanephrine and methoxytyramine in overnight/first …

Accuracy of plasma free metanephrines in the diagnosis of pheochromocytoma and paraganglioma: a systematic review and meta-analysis

Y Chen, H Xiao, X Zhou, X Huang, Y Li, H Xiao, X Cao - Endocrine Practice, 2017 - Elsevier
Objective: Various studies have validated plasma free metanephrines (MNs) as biomarkers
for pheochromocytoma and paraganglioma (PPGL). This meta-analysis aimed to estimate …

[PDF][PDF] Radioimmunoassay of chromogranin A and free metanephrines in diagnosis of pheochromocytoma.

R Bílek, T Zelinka, P Vlček, J Dušková… - Physiological …, 2017 - biomed.cas.cz
This work discusses the clinical performance of chromogranin A, free metanephrine and
normetanephrine determination in plasma using a radioimmunoanalytical methods for the …