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M. Korson · SciRah

Researcher profile · Semantic Scholar

M. Korson

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M. Korson — researcher profile on SciRah

h-index: 22
Works: 46
Citations: 2,624

Most-cited papers

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
Brendan H. Lee, G. Diaz, W. Rhead, U. Lichter-Konecki +26 more
2014Genetics in Medicine814 citations Open access
Semantic Scholar
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine293 citations Open access
Semantic Scholar
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
S. Waisbren, S. Albers, S. Amato, M. Ampola +13 more
2003216 citations
Semantic Scholar
Clinical approach to genetic cardiomyopathy in children.
M. Schwartz, G. Cox, A. Lin, M. Korson +3 more
1996Circulation157 citations
Semantic Scholar
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
M. Koenig, Lisa T. Emrick, A. Karaa, M. Korson +3 more
2016JAMA Neurology105 citations
Semantic Scholar
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
P. Allard, A. Grenier, M. Korson, T. Zytkovicz
2004Clinical Biochemistry99 citations
Semantic Scholar
N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers
M. Tuchman, L. Caldovic, Y. Daikhin, O. Horyn +5 more
2008Pediatric Research91 citations Open access
Semantic Scholar
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
G. Cox, M. Souri, T. Aoyama, S. Rockenmacher +4 more
1998Jornal de Pediatria73 citations
Semantic Scholar
Quality of life assessment in adults with type 1 Gaucher disease
B. Masek, K. Sims, C. Bove, M. Korson +2 more
1999Quality of Life Research69 citations
Semantic Scholar
The 8993 mtDNA Mutation: Heteroplasmy and Clinical Presentation in Three Families
Y. Tatuch, R. Pagon, B. W. Vlcek, R. Roberts +2 more
1994European Journal of Human Genetics67 citations
Semantic Scholar
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Vivian Shih, J. Fringer, R. Mandell, J. Kraus +5 more
1995American Journal of Human Genetics63 citations
Semantic Scholar
Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney
Z. Zsengellér, Nika Aljinovic, L. Teot, M. Korson +5 more
2014Pediatric nephrology (Berlin, West)58 citations
Semantic Scholar
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.
S. Yannicelli, P. Acosta, A. Velázquez, H. Bock +10 more
2003Molecular Genetics and Metabolism56 citations Open access
Semantic Scholar
Urinary Phenylacetylglutamine as Dosing Biomarker for Patients with Urea Cycle Disorders
M. Mokhtarani, G. Diaz, W. Rhead, U. Lichter-Konecki +26 more
2012Molecular Genetics and Metabolism46 citations Open access
Semantic Scholar
Infantile Onset of Hereditary Ascending Spastic Paralysis With Bulbar Involvement
T. Lerman-Sagie, J. Filiano, D. W. Smith, M. Korson
1996Journal of Child Neurology41 citations
Semantic Scholar
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
S. Stabler, M. Korson, R. Jethva, R. H. Allen +4 more
2013JIMD Reports39 citations Open access
Semantic Scholar
Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer.
P. Allard, L. Cowell, T. Zytkovicz, M. Korson +1 more
2004Clinical Biochemistry36 citations
Semantic Scholar
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
S. Parikh, A. Goldstein, M. Koenig, F. Scaglia +28 more
2014Mitochondrion (Amsterdam. Print)35 citations
Semantic Scholar
Rod photoreceptor function in children with mitochondrial disorders.
L. L. Cooper, R. Hansen, B. Darras, M. Korson +3 more
2002A M A Archives of Ophthalmology31 citations Open access
Semantic Scholar
Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation.
A. Casta, E. Quackenbush, C. Houck, M. Korson
1997Anesthesiology28 citations Open access
Semantic Scholar
Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
S. Waisbren, S. Albers, S. Amato, M. Ampola +13 more
2004Journal of the American Medical Association (JAMA)23 citations
Semantic Scholar
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
R. Chandler, Matthew S Tsai, K. Dorko, J. Sloan +4 more
2007BMC Medical Genetics22 citations Open access
Semantic Scholar
Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids.
Louisa Kalsner, F. Rohr, K. Strauss, M. Korson +1 more
2001Jornal de Pediatria21 citations
Semantic Scholar
Urinary lactate excretion to monitor the efficacy of treatment of type I glycogen storage disease.
Thilo Hagen, M. Korson, J. Wolfsdorf
2000Molecular Genetics and Metabolism19 citations
Semantic Scholar
The importance of gut motility in the metabolic control of propionic acidemia.
C. Prasad, S. Nurko, J. Borovoy, M. Korson
2004Jornal de Pediatria18 citations
Semantic Scholar
Self-Reported Treatment-Associated Symptoms among Patients with Urea Cycle Disorders Participating in Glycerol Phenylbutyrate Clinical Trials
S. Nagamani, G. Diaz, W. Rhead, S. A. Berry +25 more
2015Molecular Genetics and Metabolism17 citations Open access
Semantic Scholar
Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme.
T. Ciulla, K. North, O. McCabe, D. Anthony +2 more
1995Journal of pediatric ophthalmology and strabismus16 citations
Semantic Scholar
Advances in newborn screening for metabolic disorders: what the pediatrician needs to know.
M. Korson
2000Pediatric annals13 citations
Semantic Scholar
Metabolic Etiologies of Cyclic or Recurrent Vomiting
M. Korson
1995Journal of Pediatric Gastroenterology and Nutrition - JPGN13 citations Open access
Semantic Scholar
New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
S. Albers, S. Waisbren, M. Ampola, T. Brewster +11 more
2001Journal of Inherited Metabolic Disease12 citations
Semantic Scholar
Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit
T. Georgiou, J. Chuang, R. Wynn, G. Stylianidou +3 more
2009Genetic Testing and Molecular Biomarkers10 citations Open access
Semantic Scholar
Neuropsychiatric Illness in a Patient with Cobalamin G Disease, an Inherited Disorder of Vitamin B12 Metabolism
K. Hill, C. J. Lukonis, M. Korson, Cheryl S. Weinstein +2 more
2004Harvard Review of Psychiatry7 citations
Semantic Scholar
Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion.
M. Korson, H. Levy
1990Journal of Pediatric Gastroenterology and Nutrition - JPGN4 citations Open access
Semantic Scholar
Response to Newman et al.
S. Parikh, A. Goldstein, A. Karaa, M. Koenig +31 more
2017Genetics in Medicine3 citations Open access
Semantic Scholar
Four cases with hypoplastic thumbs and encephaloceles.
Ta-Yi Huang, M. Korson, C. Krauss, L. Holmes
2002American journal of medical genetics3 citations
Semantic Scholar
THE NEONATAL PHENOTYPE OF GALACTOSEMIA
M. Korson, M. Irons, H. Levy
1987Pediatric Research3 citations
Semantic Scholar
Central Apnea in a Child With Congenital Autonomic Dysfunction and Universal Pain Loss
Anne R. Hansen, N. Guerina, T. Lerman-Sagie, M. Korson
1996Journal of Child Neurology2 citations
Semantic Scholar
Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate
S. Nagamani, G. Diaz, W. Rhead, S. A. Berry +20 more
20140 citations
Semantic Scholar
Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes
Sarah M. Lo, Jun Liu, G. Pastores, J. Knowles +4 more
20110 citations
Semantic Scholar
The overlap of metabolic/mitochondrial disease and Munchausen-by-proxy syndrome (MBPS)
Soumitra Rajagopal, R. Reece, M. Korson
20110 citations
Semantic Scholar
Mitochondrial Medicine 2007: Riding the Wave of the Future
M. Korson, V. Mootha, P. Stacpoole, C. A. Cary +7 more
20070 citations
Semantic Scholar
SHORT REPORT New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
S. Albers, S. Waisbren, M. Ampola, T. Brewster +11 more
20010 citations
Semantic Scholar
A Missense Mutation (1278T) intheCystathionine p-Synthase GenePrevalent inPyridoxine-Responsive Homocystinuria and Associated withMildClinical Phenotype
Vivian Shih, J. Fringer, R. Mandell, J. Kraus +4 more
19950 citations
Semantic Scholar
Severe failure-to-thrive and nonlipid-storage myopathy as presentation of short-chain acyl-coenzyme a dehydrogenase deficiency
T. Lerman-Sagie, D. Anthony, F. Dougherty, P. Rufo +2 more
19940 citations
Semantic Scholar
Neurodevelopmental outcome in propionic acidemia
K. North, Y. Ghopal, T. Brazelton, S. Waisbren +2 more
19940 citations
Semantic Scholar
AMINO ACID (AA) AND CSF NEUROTRANSMITTER (NT) PROFILES IN NEONATES WITH GALACTOSEMIA (GAL)
M. Korson, M. Irons, H. Levy
1987Pediatric Research0 citations
Semantic Scholar

Frequent co-authors

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