Volume and cellular content of normal pleural fluid in humans examined by pleural lavage

…, R LI, KV GUCHT, JAN D'HAESE, E Gerlo… - American journal of …, 2000 - atsjournals.org
Currently, no reliable data are available on the volume or on the cellular content of pleural
fluid in normal humans. In analogy with bronchoalveolar lavage (a technique enabling …

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

…, W Lissens, I De Clercq, F Eyskens, E Gerlo… - Journal of medical …, 2004 - jmg.bmj.com
In patients with mitochondrial encephalomyopathies an increasing number of causative
gene defects have been detected. The number of identified pathogenic mitochondrial DNA …

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

…, B Sepulchre, A Hoorens, E Gerlo… - American journal of …, 2003 - Wiley Online Library
We investigated two siblings of a Spanish family presenting with congenital lactic acidosis.
They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated …

Urinary and plasma catecholamines and urinary catecholamine metabolites in pheochromocytoma: diagnostic value in 19 cases

EA Gerlo, C Sevens - Clinical chemistry, 1994 - academic.oup.com
We review our data on the measurement of catecholamines and their metabolites in 19
patients with pheochromocytoma. All the assays were specific high-performance liquid …

Homozygous Gly555Glu mutation in the nuclear‐encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

…, J Smet, R Van Hecke, E Gerlo… - American Journal of …, 2003 - Wiley Online Library
A homozygous mutation in the flavoprotein (Fp) gene associated with complex II deficiency
was demonstrated in a patient with consanguineous parents. She succumbed at 5½ months …

Aminoacylase I deficiency: a novel inborn error of metabolism

RN Van Coster, EA Gerlo, TG Giardina… - Biochemical and …, 2005 - Elsevier
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-
acetylated amino acids were detected by gas chromatography–mass spectrometry in the …

Acrodermatitis enteropathica–like cutaneous lesions in organic aciduria

…, L De Meirleir, J Ramet, Y Vandenplas, E Gerlo - The Journal of …, 1994 - Elsevier
Cutaneous lesions resembling acrodermatitis enteropathica were present in two infants with
methylmalonic acidemia and in one infant with propionic acidemia. All three infants were …

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis

…, A Michotte, JM Brucher, E Vamos, E Gerlo… - Pediatric …, 1993 - Elsevier
A female neonate with pyruvate dehydrogenase (PDH) deficiency is presented with clinical,
radiologic, biochemical, neuropathologic, and molecular genetic data. She was dysmorphic …

[HTML][HTML] Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

…, C Thys, M Di Michele, GA Martens, E Gerlo… - Genetics in …, 2013 - nature.com
Purpose: Aquaporin 7 (AQP7) belongs to the aquaglyceroporin family, which transports
glycerol and water. AQP7-deficient mice develop obesity, insulin resistance, and …

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

…, JO Sass, RN Van Coster, E Gerlo… - NMR in …, 2008 - Wiley Online Library
Aminoacylase 1 deficiency is a novel inborn error of metabolism. The clinical significance of
the deficiency is under discussion, as well as the possible consequences of the defect for …