Citation Impact
Citing Papers
Surveillance for Foodborne Disease Outbreaks—United States, 2006
2009 Standout
Neonatal screening for cystic fibrosis: A comparison of two strategies for case detection in 1.2 million babies
1995
Chromosome Abnormalities and Genetic Counseling
2011
ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model
2023 StandoutNobel
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
2019
Mass spectrometry‐based metabolomics
2006 Standout
Knowledge and intelligent computing system in medicine
2009 Standout
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
The evolution of human skin coloration
2000 Standout
A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele
2011 Standout
Effects of l-Carnitine on Oxidative Stress Responses in Patients with Renal Disease
2010
Sensory Innervation of the Dorsal Portion of the Lumbar Intervertebral Disc in Rats
1999 StandoutNobel
Prevalence of Lysosomal Storage Disorders
1999 Standout
Novel Functions of Cholinesterases in Development, Physiology and Disease
1994
Stages in the development of Parkinson’s disease-related pathology
2004 Standout
Rapid translocation of nanoparticles from the lung airspaces to the body
2010 StandoutNobel
Trends in the use of prenatal diagnosis in New York State and the impact of biochemical screening on the detection of Down syndrome: 1984–1993
1997
Neural-Tube Defects
1999 Standout
Maternal and child undernutrition and overweight in low-income and middle-income countries
2013 Standout
A novel role for 12/15-lipoxygenase in regulating autophagy
2014 StandoutNobel
Erythropoiesis Stimulatory Agent- Resistant Anemia in Dialysis Patients: Review of Causes and Management
2009
Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop
1995 Standout
An update of the enzymology and regulation of sphingomyelin metabolism
1990
Spina bifida
2004
Hydrophilic interaction chromatography
2006 Standout
Phenserine and ring C hetero‐analogues: Drug candidates for the treatment of Alzheimer's disease
1995
Natural products to drugs: natural product-derived compounds in clinical trials
2008 Standout
Suggested guidelines for the diagnosis and management of urea cycle disorders
2012
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs
1993
Stages of embryonic development of the zebrafish
1995 Standout
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
2005
Prevention of neural tube defects: vitamins, enzymes and genes
1998
Chemotherapy-Induced Nausea and Vomiting
2008 Standout
Is Down Syndrome a Disappearing Birth Defect?
2007
Chromosome 21 and Down syndrome: from genomics to pathophysiology
2004 Standout
Gene therapy for mucopolysaccharidosis
2007
Oxidative stress in chronic kidney disease
2018 Standout
Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006
2010 Standout
Maternal Overweight and Obesity and the Risk of Congenital Anomalies
2009 Standout
Common EF‐hand motifs in cholinesterases and neuroligins suggest a role for Ca2+ binding in cell surface associations
2000 StandoutNobel
Inhibition of Carnitine Palmitoyltransferase I Augments Sphingolipid Synthesis and Palmitate-induced Apoptosis
1997 StandoutNobel
An artificial intelligent diagnostic system with neural networks to determine genetical disorders and fetal health by using maternal serum markers
1995
Folic acid to reduce neonatal mortality from neural tube disorders
2010
Down's syndrome
2003 Standout
Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression
2002 Standout
The human amygdaloid complex: A cytologic and histochemical atlas using Nissl, myelin, acetylcholinesterase and nicotinamide adenine dinucleotide phosphate diaphorase staining
1990
Construction of a fluorescent biosensor family
2002
Epidemiology of neural tube defects
2005
Characterization of the Interaction of a Recombinant Soluble Neuroligin-1 with Neurexin-1β
2003 StandoutNobel
Health Supervision for Children With Down Syndrome
2011 Standout
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders
1992
Early expression of acetylcholinesterase activity in functionally distinct neurons of the zebrafish
1989
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
2006
Decision-making for termination of pregnancies with fetal anomalies: analysis of 53,000 pregnancies
2002
Down syndrome
2020 Standout
Folic acid and neural tube defects
1996
Advances in analysis of glycosaminoglycans: its application for the assessment of physiological and pathological states of connective tissues
2002
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Versatile Access to Chiral Indolines by Catalytic Asymmetric Fischer Indolization
2013 StandoutNobel
Activator proteins and topology of lysosomal sphingolipid catabolism
1992
Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis
2003 Standout
Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
1997
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
2003
The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism
2002
Geographical Detectors‐Based Health Risk Assessment and its Application in the Neural Tube Defects Study of the Heshun Region, China
2010 Standout
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Aggregation-Induced Emission: Together We Shine, United We Soar!
2015 Standout
Programmed Cell Death Induced by Ceramide
1993 StandoutScience
Inhibition of sphingolipid biosynthesis by fumonisins. Implications for diseases associated with Fusarium moniliforme
1991 Standout
Optical measurement of synaptic glutamate spillover and reuptake by linker optimized glutamate-sensitive fluorescent reporters
2008 StandoutNobel
Morphological, Biochemical and Molecular Biology Approaches for the Diagnosis of Lysosomal Storage Diseases
2000
Neuroactive substances in the dorsal vagal complex of the medulla oblongata: nucleus of the tractus solitarius, area postrema, and dorsal motor nucleus of the vagus
1985
The section-Golgi-impregnation procedure—3. Combination of Golgi-impregnation with enzyme histochemistry and electron microscopy to characterize acetylcholinesterase-containing neurons in the rat neostriatum
1984
Prodrugs for improved ocular drug delivery
1989
Vielseitiger Zugang zu chiralen Indolinen über katalytische asymmetrische Fischer‐Indolisierung
2013 StandoutNobel
Simple Telemedicine for Developing Regions: Camera Phones and Paper-Based Microfluidic Devices for Real-Time, Off-Site Diagnosis
2008 Standout
Nerve supply to the posterior longitudinal ligament and the intervertebral disc of the rat vertebral column as studied by acetylcholinesterase histochemistry. II. Regional differences in the distribution of the nerve fibres and their origins.
1990
New GM1 Ganglioside Derivatives for Selective Single and Double Labelling of the Natural Glycosphingolipid Skeleton
2009 StandoutNobel
Treatment of erythropoietin deficiency in mice with systemically administered siRNA
2012 StandoutNobel
Works of Enzo Ranieri being referenced
Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis.
1993
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA.
2007
The sensitivity of ultrasound and serum alpha‐fetoprotein in population‐based antenatal screening for neural tube defects, South Australia 1986–1991
1995
Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience
1994
Multiple acyl-coenzyme A dehydrogenase deficiency: Diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card
1999
Endogenous plasma carnitine pool composition and response to erythropoietin treatment in chronic haemodialysis patients
2008
The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia
2000
Glycosaminoglycan Accumulation and Excretion in the Mucopolysaccharidoses: Characterization and Basis of a Diagnostic Test for MPS
1998
Studies on the activation of the enzymatic hydrolysis of sphingomyelin liposomes
1984
Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.
1991
The enkephalins are amongst the peptides hydrolyzed by purified acetylcholinesterase
1983
Sphingomyelinase in cultured skin fibroblasts from normal and Niemann‐Pick type C patients
1983
Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
2004
Quantification of Glutamine in Dried Blood Spots and Plasma by Tandem Mass Spectrometry for the Biochemical Diagnosis and Monitoring of Ornithine Transcarbamylase Deficiency
2003
Determination of Oligosaccharides in Pompe Disease by Electrospray Ionization Tandem Mass Spectrometry
2002
Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III
1986
Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
2009
Modifying an enzyme immunoassay of immunoreactive trypsinogen to use time-resolved fluorescence
1993
A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome.
1991