Citation Impact
Citing Papers
Interleukin-1 in the pathogenesis and treatment of inflammatory diseases
2011 Standout
Alteration of enzyme specificity by computational loop remodeling and design
2009 StandoutNobel
HIF-1-Mediated Suppression of Acyl-CoA Dehydrogenases and Fatty Acid Oxidation Is Critical for Cancer Progression
2014 StandoutNobel
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
1999
Direct Nonisotopic Assay of 3-Methylglutaconyl-CoA Hydratase in Cultured Human Skin Fibroblasts to Specifically Identify Patients with 3-Methylglutaconic Aciduria Type I
2004
Kidney stones: pathophysiology and medical management
2006 Standout
Long-term immunity to measles, mumps and rubella after MMR vaccination among children with bone marrow transplants
2004
Gammahydroxybutyrate: An endogenous regulator of energy metabolism
1989
Carnitine Deficiency Disorders in Children
2004
Molecular basis of Canavan disease
1998
The association of nonsense codons with exon skipping
1998
The biochemical basis of mitochondrial diseases
1988
Antibodies Set Boundaries Limiting Microbial Metabolite Penetration and the Resultant Mammalian Host Response
2018
Can available interventions end preventable deaths in mothers, newborn babies, and stillbirths, and at what cost?
2014 Standout
Effect of community-based newborn-care intervention package implemented through two service-delivery strategies in Sylhet district, Bangladesh: a cluster-randomised controlled trial
2008 Standout
The Failing Heart — An Engine Out of Fuel
2007 Standout
Molecular Etiology of Primary Hyperoxaluria Type 1: New Directions for Treatment
2005
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease
2017
Carnitine biosynthesis in mammals
2002
Familial Creutzfeldt-Jakob Disease: Codon 200 Prion Disease in Libyan Jews
1997 StandoutNobel
Defects of cholesterol biosynthesis
2006
The α‐Ketoglutarate Dehydrogenase Complex
1999
Purine and pyrimidine metabolites in children's urine
2003
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation
2012 StandoutNatureNobel
Cloning and Characterization of Human Guanine Deaminase
1999
Disorders of carnitine transport and the carnitine cycle
2006
Psychedelics
2016 Standout
Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease
1996
Oxygen sensing by HIF hydroxylases
2004 StandoutNobel
Development of a rational scale to assess the harm of drugs of potential misuse
2007 Standout
Induction of Cytoprotective Pathways Is Central to the Extension of Lifespan Conferred by Multiple Longevity Pathways
2012 StandoutNobel
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Evidence for Linkage of Human Primary Systemic Carnitine Deficiency with D5S436: A Novel Gene Locus on Chromosome 5q
1998
Determination of the structures of respiratory enzyme complexes from mammalian mitochondria
1995 StandoutNobel
Mitochondrial energy metabolism is markedly impaired by d-2-hydroxyglutaric acid in rat tissues
2005
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping
2001
The Subsystems Approach to Genome Annotation and its Use in the Project to Annotate 1000 Genomes
2005 Standout
Hyperoxaluric calcium nephrolithiasis
2002
Glutaminolysis and Transferrin Regulate Ferroptosis
2015 Standout
The cornified envelope: a model of cell death in the skin
2005 Standout
N-Acetylaspartylglutamate (NAAG) in Pelizaeusmerzbacher Disease
2006
N-Acetyl Aspartic Acid (NAA) and N-Acetyl Aspartylglutamic Acid (NAAG) in Human Ventricular, Subarachnoid, and Lumbar Cerebrospinal Fluid
1999
Variations of muscle mitochondrial creatine kinase activity in in mitochondrial diseases
1996
Caspase Functions in Cell Death and Disease
2013 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology
2007 Standout
Myocardial Substrate Metabolism in the Normal and Failing Heart
2005 Standout
Polyspecific Organic Cation Transporters: Structure, Function, Physiological Roles, and Biopharmaceutical Implications
2007
Gammahydroxybutyrate: An overview of the pros and cons for it being a neurotransmitter and/or a useful therapeutic agent
1994
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
THE γ-HYDROXYBUTYRATE SIGNALLING SYSTEM IN BRAIN: ORGANIZATION AND FUNCTIONAL IMPLICATIONS
1997
Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2
1998
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
Pyroptosis: host cell death and inflammation
2009 Standout
Screening for defects of branched-chain amino acid metabolism
1994
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
2002
Canavan disease: From spongy degeneration to molecular analysis
1995
Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes
2006
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice
2005
Biochemical diagnosis of Canavan disease
1992
Points of control in inflammation
2002 StandoutNature
Canavan's Spongiform Leukodystrophy : A Clinical Anatomy of a Genetic Metabolic CNS Disease
2000
Oxidative stress and neurodegeneration: where are we now?
2006 Standout
Molybdenum cofactor transfer from bacteria to nematode mediates sulfite detoxification
2019 StandoutNobel
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
2000
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
2004
Canavan disease and the role of N-acetylaspartate in myelin synthesis
2006
Hypoacetylaspartia: Clinical and Biochemical Follow-Up of a Patient
2006
Inflammation, metaflammation and immunometabolic disorders
2017 StandoutNature
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
1999
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome
2001 Standout
Mevalonate pathway: A review of clinical and therapeutical implications
2007
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
2007 Standout
A role for geranylgeranylation in interleukin‐1β secretion
2006
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
1993
The pros, cons, and many unknowns of probiotics
2019 Standout
Metabolic cardiomyopathies
2000
Incorporation of Pseudouridine Into mRNA Yields Superior Nonimmunogenic Vector With Increased Translational Capacity and Biological Stability
2008 StandoutNobel
Neurologic genetic diseases of Jewish people
1994
GABA in plants: just a metabolite?
2004 Standout
Community-Based Interventions for Improving Perinatal and Neonatal Health Outcomes in Developing Countries: A Review of the Evidence
2005
Medulloblastoma in a Child with the Metabolic Disease <i>L</i>-2-Hydroxyglutaric Aciduria
2002
Synthesis, structure and properties of polyhydroxyalkanoates: biological polyesters
2000 Standout
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
1999
N -Acetylaspartate in neuropsychiatric disorders
1995
Myocardial Fatty Acid Metabolism in Health and Disease
2010 Standout
Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion
2000
Fundamentals of cancer metabolism
2016 Standout
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Gamma hydroxy butyrate abuse and dependency
2005
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
1998
Alkylation and Inactivation of Human Glutathione Transferase Zeta (hGSTZ1-1) by Maleylacetone and Fumarylacetone
2002
Immunological and Inflammatory Functions of the Interleukin-1 Family
2009 Standout
Fatty Acid Oxidation Disorders
2002
Inflammatory Bowel Disease
2010 Standout
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
GLUTATHIONE TRANSFERASES
2004 Standout
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
2000
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency
1996
A possible correlation between drug-induced hallucinations in man and a behavioural response in mice
1967
Community-based intervention packages for reducing maternal and neonatal morbidity and mortality and improving neonatal outcomes
2015 Standout
Clinical Approach to Genetic Cardiomyopathy in Children
1996
The Metabolic Syndrome
2008 Standout
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
2002
2013 IDSA Clinical Practice Guideline for Vaccination of the Immunocompromised Host
2013 Standout
F1F0-ATP synthase from bovine heart mitochondria: development of the purification of a monodisperse oligomycin-sensitive ATPase
1993 StandoutNobel
Hypermetabolism of Fat in V1a Vasopressin Receptor Knockout Mice
2006
Molecular Cloning and Nucleotide Sequence of cDNAs Encoding the Precursors of Rat Long Chain Acyl-Coenzyme A, Short Chain Acyl-Coenzyme A, and Isovaleryl-Coenzyme A Dehydrogenases
1989
A Premature Termination Codon Interferes with the Nuclear Function of an Exon Splicing Enhancer in an Open Reading Frame-Dependent Manner
1999
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Statin-Induced Proinflammatory Response in Mitogen-Activated Peripheral Blood Mononuclear Cells through the Activation of Caspase-1 and IL-18 Secretion in Monocytes
2006
Quantification ofN‐acetyl‐l‐aspartic acid in urine by isotope dilution gas chromatography‐mass spectrometry
1990
Creatine and Creatinine Metabolism
2000 Standout
Works of P. Divry being referenced
3‐Methylglutaconic aciduria in “optic atrophy plus”
1993
Combined liver-kidney transplantation in primary hyperoxaluria type 1
1999
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
1991
N-acetylaspartylglutamate in Canavan disease: an adverse effector?
1999
NovelOCTN2mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
2002
Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry
1999
Spongy Degeneration of the Neuraxis (Canavan-Van Bogaert Disease) and N-Acetylaspartic Aciduria
1989
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
1998
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal
1988
N‐Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy
1988
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
1988
A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism
1983
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis
1993
DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT
1983
5‐Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome
1991
Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria
1984
Sudden infant death syndrome: Organic acid profiles in cerebrospinal fluid from 47 children and the occurrence ofN‐acetylaspartic acid
1990
Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosis
1985
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency
1987
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine
1983
[Report on the neuropsycho-pharmacological activity of haloperidol (R 1625)].
1960
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1997
2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case
1993
Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria
1993
[N-acetylaspartic aciduria. Clinical, biological and physiopathological study].
1991
1993
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria
1984
Canavan disease: findings in four new cases
1991
4‐Hydroxybutyric aciduria: A new inborn error of metabolism. I. Clinical review
1984
Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with Canavan disease
1989
The inborn errors of mitochondrial fatty acid oxidation
1987
Lethal dilated cardiomyopathy due to long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency
1996
EFFECT OF ORAL LIPID ADMINISTRATION ON GLUCOSE HOMEOSTASIS IN SMALL‐FOR‐GESTATIONAL‐AGE INFANTS
1982