L. V. D. Heuvel

发表

L. Morando, D. Kahila, A. Vénisse, 2011, Pediatric Nephrology.

DNA methylation patterns in the calcitonin gene region at first diagnosis and at relapse of acute lymphoblastic leukemia (ALL)

L. V. D. Heuvel, L. Lambooy, J. Bökkerink, 1997, Leukemia.

PACAP deficiency associated with increased platelet count and aggregability in nephrotic syndrome

L. V. D. Heuvel, E. Levtchenko, K. Freson, 2015 .

Brody syndrome: A clinically heterogeneous entity distinct from Brody disease A review of literature and a cross-sectional clinical study in 17 patients

B. Engelen, L. V. D. Heuvel, G. Drost, 2012, Neuromuscular Disorders.

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

L. V. D. Heuvel, J. Smeitink, L. E. Niers, 2003, Journal of Inherited Metabolic Disease.

Mitochondrial tRNA Leu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis

J. Wetzels, L. V. D. Heuvel, F. Hol, 2005 .

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

P. Frosst, H. Blom, G. Boers, 1996, American journal of human genetics.

Eculizumab in Pediatric Dense Deposit Disease.

L. V. D. Heuvel, L. P. Van den Heuvel, B. Hoppe, 2015, Clinical journal of the American Society of Nephrology : CJASN.

Regularized MANOVA (rMANOVA) in untargeted metabolomics.

L. Buydens, L. V. D. Heuvel, L. Blanchet, 2015, Analytica chimica acta.

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review

L. V. D. Heuvel, L. P. Van den Heuvel, E. Levtchenko, 2009, European Journal of Pediatrics.

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology

L. V. D. Heuvel, J. Smeitink, J. Loeffen, 1999, Journal of Inherited Metabolic Disease.

Mitochondrial disease criteria

R. Rodenburg, L. V. D. Heuvel, J. Smeitink, 2006, Neurology.

DBH gene variants that cause low plasma dopamine β hydroxylase with or without a severe orthostatic syndrome

F. V. van Ittersum, L. V. D. Heuvel, R. Wevers, 2004, Journal of Medical Genetics.

A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome.

J. Wetzels, E. Volokhina, L. V. D. Heuvel, 2012, The Netherlands journal of medicine.

Mild intracellular acidification by dexamethasone attenuates mitochondrial dysfunction in a human inflammatory proximal tubule epithelial cell model

L. V. D. Heuvel, L. P. Van den Heuvel, F. Russel, 2017, Scientific Reports.

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

L. V. D. Heuvel, J. Smeitink, L. P. Van den Heuvel, 2000, Biochemical and biophysical research communications.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

Some practical aspects of providing a diagnostic service for respiratory chain defects

L. V. D. Heuvel, J. Smeitink, L. P. Van den Heuvel, 2003, Annals of clinical biochemistry.

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

L. V. D. Heuvel, R. Sengers, J A Smeitink, 2000, Human mutation.

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.

J. Kastelein, J. Jukema, H. Blom, 1997, Circulation.

Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration

A. D. den Hollander, E. Volokhina, L. V. D. Heuvel, 2018, Clinical genetics.

Conditionally immortalized human glomerular endothelial cells expressing fenestrations in response to VEGF.

L. V. D. Heuvel, M. O'hare, L. P. Van den Heuvel, 2006, Kidney international.

A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

H. Smeets, R. Kalluri, L. V. D. Heuvel, 1995, Kidney international.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

L. V. D. Heuvel, B. V. van Engelen, L. P. Van den Heuvel, 2016, Journal of neuromuscular diseases.

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

R. Rodenburg, L. V. D. Heuvel, J. Smeitink, 2010, Journal of Inherited Metabolic Disease.

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.

D. Zafeiriou, P. Pouwels, R. Rodenburg, 2008, Neuropediatrics.

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission

E. Volokhina, L. V. D. Heuvel, T. Mollnes, 2015, Clinical and experimental immunology.

Detection of verocytotoxin bound to circulating polymorphonuclear leukocytes of patients with hemolytic uremic syndrome.

L. V. D. Heuvel, V. V. van Hinsbergh, L. P. Van den Heuvel, 2001, Journal of the American Society of Nephrology : JASN.

The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type

L. V. D. Heuvel, L. Monnens, J. Veerkamp, 2004, Pediatric Nephrology.