Citation Impact
Citing Papers
Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer
2015 Standout
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
2007
Mass spectrometry‐based metabolomics
2006 Standout
Kidney stones: pathophysiology and medical management
2006 Standout
The scent of disease: volatile organic compounds of the human body related to disease and disorder
2011 Standout
Disorders of purine and pyrimidine metabolism
2005
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation
2012 StandoutNatureNobel
A New Gene–Pseudogene Fusion Allele Due to a Recombination in Intron 2 of the Glucocerebrosidase Gene Causes Gaucher Disease
2000
Gout
2009 Standout
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
2009 StandoutNature
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Insulin Autoimmunity and Hypoglycemia in Seven White Patients
2005
Mitochondrial energy metabolism is markedly impaired by d-2-hydroxyglutaric acid in rat tissues
2005
Chronic Health Conditions in Adult Survivors of Childhood Cancer
2006 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
HIF-1α Is Essential for Myeloid Cell-Mediated Inflammation
2003 Standout
Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer
2007
Mitochondrial TCA cycle metabolites control physiology and disease
2020 Standout
Cognitive sequelae of treatment in childhood acute lymphoblastic leukemia: cranial radiation requires an accomplice.
1995
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
2004
Inherited Hyperuricemic Disorders
2004
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
2006
Mass Spectrometry in the Clinical Laboratory
2001
Interactions of Prostaglandin H2 and Thromboxane A2 with Human Serum Albumin
1980 StandoutNobel
Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria
2010
Medulloblastoma in a Child with the Metabolic Disease <i>L</i>-2-Hydroxyglutaric Aciduria
2002
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
2003
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
2007
Fundamentals of cancer metabolism
2016 Standout
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders
2000
Inflammation, glycolytic metabolism, and glycosaminoglycans
1986
Isoelectric points of proteins: A table
1978
Progress in understanding 2‐hydroxyglutaric acidurias
2012
The role of oxidative damage in the neuropathology of organic acidurias: Insights from animal studies
2004
Symmetry-free cryo-EM structures of the chaperonin TRiC along its ATPase-driven conformational cycle
2011 StandoutNobel
METLIN
2005 Standout
Works of N. Chamoles being referenced
[Autoimmune hypoglycemia syndrome with specific anti-human insulin antibodies].
1996
Sequential thin layer chromatography of urinary acidic glycosaminglycans
1972
An Unexpected Affected Female Patient in a Classical Lesch–Nyhan Family
2000
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
1998
The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?
1997
Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation
1998
Corrélation entre l'enzymogramme classique de la lacticodéshydrogénase et son fractionnement par isoelectrofocusing en gel d'acrylamide
1970
Neuropsychological study in patients with ALL. Two different CNS prevention therapies--cranial irradiation plus IT methotrexate vs. IT methotrexate alone.
1983
1993