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1

The overlap of metabolic/mitochondrial disease and Munchausen-by-proxy syndrome (MBPS)

Soumitra Rajagopal⁎, Robert Reece, Mark Korson

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 61 KB

english, 2011

2

Four cases with hypoplastic thumbs and encephaloceles

Taosheng Huang, Mark S. Korson, Celeste Krauss, Lewis B. Holmes

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 137 KB

english, 2002

3

Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

Pierre Allard, André Grenier, Mark S. Korson, Thomas H. Zytkovicz

Journal:

Clinical Biochemistry

Année:

2004

Langue:

english

Fichier:

PDF, 170 KB

english, 2004

4

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes

Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom, Charles P Venditti

Journal:

BMC Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2007

5

Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer

Pierre Allard, Lurley D. Cowell, Thomas H. Zytkovicz, Mark S. Korson, Mary G. Ampola

Journal:

Clinical Biochemistry

Année:

2004

Langue:

english

Fichier:

PDF, 246 KB

english, 2004

6

Quality of life assessment in adults with type 1 Gaucher disease

Bruce J. Masek, Katherine B. Sims, Catherine M. Bove, Mark S. Korson, Priscilla Short, Dennis K. Norman

Journal:

Quality of Life Research

Année:

1999

Langue:

english

Fichier:

PDF, 89 KB

english, 1999

7

Urinary Lactate Excretion to Monitor the Efficacy of Treatment of Type I Glycogen Storage Disease

Thilo Hagen, Mark S. Korson, Joseph I. Wolfsdorf

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 65 KB

english, 2000

8

The importance of gut motility in the metabolic control of propionic acidemia

Chitra Prasad, Samuel Nurko, Jacob Borovoy, Mark S. Korson

Journal:

The Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 129 KB

english, 2004

9

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

Steven Yannicelli, Phyllis B Acosta, Antonio Velazquez, Hans-Georg Bock, Barbara Marriage, Thaddeus W Kurczynski, Marvin Miller, Mark Korson, Robert D Steiner, Lane Rutledge, Laurie Bernstein, Jeffrey

Journal:

Molecular Genetics and Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 178 KB

english, 2003

10

Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes

Sarah Lo, Jun Liu, Gregory Pastores, James Knowles, Michael Boxer, Mark Korson, Kirk Alec, Pramod Mistry

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 70 KB

english, 2011

11

Quantification of glutaric acid by isotope dilution mass spectrometry for patients with glutaric acidemia type I: selected ion monitoring vs. selected ion storage

Thilo Hagen, Mark S. Korson

Journal:

Clinica Chimica Acta

Année:

1999

Langue:

english

Fichier:

PDF, 157 KB

english, 1999

12

A GC/MS/MS screening method for multiple organic acidemias from urine specimens

Thilo Hagen, Mark S. Korson, Masayuki Sakamoto, James E. Evans

Journal:

Clinica Chimica Acta

Année:

1999

Langue:

english

Fichier:

PDF, 182 KB

english, 1999

13

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys

Kathryn N. North, Charles L. Hoppel, Umberto De Girolami, Harry P.W. Kozakewich, Mark S. Korson

Journal:

The Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 3.50 MB

english, 1995

14

Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management

Kathryn N. North, Mark S. Korson, Yasodha R. Gopal, Frances J. Rohr, T.Berry Brazelton, Susan E. Waisbren, Matthew L. Warman

Journal:

The Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 763 KB

english, 1995

15

Oxidative phosphorylation defect associated with primary adrenal insufficiency

Kathryn North, Mark S. Korson, Nicolas Krawiecki, John M. Shoffner, Ingrid A. Holm

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 871 KB

english, 1996

16

Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet

Kathryn J. Swoboda, Linda Specht, H.Royden Jones, Frederic Shapiro, Salvatore DiMauro, Mark Korson

Journal:

The Journal of Pediatrics

Année:

1997

Langue:

english

Fichier:

PDF, 906 KB

english, 1997

17

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency

Gerald F. Cox, Masayoshi Souri, Toshifumi Aoyama, Sol Rockenmacher, Liza Varvogli, Frances Rohr, Takashi Hashimoto, Mark S. Korson

Journal:

The Journal of Pediatrics

Année:

1998

Langue:

english

Fichier:

PDF, 239 KB

english, 1998

18

Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids

Louisa R. Kalsner, Frances J. Rohr, Kevin A. Strauss, Mark S. Korson, Harvey L. Levy

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 113 KB

english, 2001

19

Severe folate deficiency and pancytopenia in a nutritionally deprived infant with homocystinuria caused by cystathionine beta-synthase deficiency

Joseph Wagstaff, Mark Korson, Jan P. Kraus, Harvey L. Levy

Journal:

The Journal of Pediatrics

Année:

1991

Langue:

english

Fichier:

PDF, 344 KB

english, 1991

20

Severe failure-to-thrive and nonlipid-storage myopathy as presentation of short-chain acyl-coenzyme a dehydrogenase deficiency

Tally Lerman-Sagie, Douglas Anthony, Frances E. Dougherty, Paul A. Rufo, Samuel Nurko, Mark Korson

Journal:

Pediatric Neurology

Année:

1994

Langue:

english

Fichier:

PDF, 245 KB

english, 1994

21

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

Zsengellér, Zsuzsanna K., Aljinovic, Nika, Teot, Lisa A., Korson, Mark, Rodig, Nancy, Sloan, Jennifer L., Venditti, Charles P., Berry, Gerard T., Rosen, Seymour

Journal:

Pediatric Nephrology

Année:

2014

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2014

22

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

Tuchman, Mendel, Caldovic, Ljubica, Daikhin, Yevgeny, Horyn, Oksana, Nissim, Ilana, Nissim, Itzhak, Korson, Mark, Burton, Barbara, Yudkoff, Marc

Journal:

Pediatric Research

Année:

2008

Langue:

english

Fichier:

PDF, 753 KB

english, 2008

23

Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit

Georgiou, Theodoros, Chuang, Jacinta L., Wynn, R. Max, Stylianidou, Goula, Korson, Mark, Chuang, David T., Drousiotou, Anthi

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2009

Langue:

english

Fichier:

PDF, 214 KB

english, 2009

24

Metabolic Etiologies of Cyclic or Recurrent Vomiting

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

1995

Fichier:

PDF, 3.12 MB

1995

25

Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Waisbren, Susan E., Albers, Simone, Amato, Steve, Ampola, Mary, Brewster, Thomas G., Demmer, Laurie, Eaton, Roger B., Greenstein, Robert, Korson, Mark, Larson, Cecilia, Marsden, Deborah, Msall, Michae

Journal:

Obstetric and Gynecologic Survey

Année:

2004

Langue:

english

Fichier:

PDF, 648 KB

english, 2004

26

Perioperative White Matter Degeneration and Death in a Patient with a Defect in Mitochondrial Oxidative Phosphorylation

Casta, Alfonso, Quackenbush, Elizabeth J., Houck, Constance S., Korson, Mark S.

Journal:

Année:

1997

Fichier:

PDF, 4.44 MB

1997

27

Error in histologic dating of secretory endometrium: variance component analysis**Supported by National Institutes of Health grant RO123542-02, Bethesda, Maryland.

Gibson, Mark, Badger, Gary J., Byrn, Francis, Lee, Kenneth R., Korson, Roy, Trainer, Thomas D.

Journal:

Fertility and Sterility

Année:

1991

Langue:

english

Fichier:

PDF, 782 KB

english, 1991

28

Neuropsychiatric Illness in a Patient with Cobalamin G Disease, an Inherited Disorder of Vitamin B12 Metabolism

Hill, Kevin P., Lukonis, Christopher J., Korson, Mark S., Weinstein, Cheryl, Thall, Mark, Schwartz, Jane T.

Journal:

Harvard Review of Psychiatry

Année:

2004

Langue:

english

Fichier:

PDF, 71 KB

english, 2004

29

Pitfalls in Diagnosing Galactosemia

Korson, Mark S., Levy, Harvey L.

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

1990

Fichier:

PDF, 186 KB

1990

30

Quality of Life Assessment in Adults with Type 1 Gaucher Disease

Bruce J. Masek, Katherine B. Sims, Catherine M. Bove, Mark S. Korson, Priscilla Short and Dennis K. Norman

Journal:

Quality of Life Research

Année:

1999

Langue:

english

Fichier:

PDF, 758 KB

english, 1999

31

THE NEONATAL PHENOTYPE OF GALACTOSEMIA

Korson, Mark, Irons, Mira, Levy, Harvey L

Journal:

Pediatric Research

Année:

1987

Langue:

english

Fichier:

PDF, 173 KB

english, 1987

32

AMINO ACID (AA) AND CSF NEUROTRANSMITTER (NT) PROFILES IN NEONATES WITH GALACTOSEMIA (GAL)

Korson, Mark, Irons, Mira, Levy, Harvey L

Journal:

Pediatric Research

Année:

1987

Langue:

english

Fichier:

PDF, 149 KB

english, 1987

33

The Down-Deep Delight of Democracy

Purcell, Mark, Korson, Cadey

Journal:

Human Geography

Année:

2017

Langue:

english

Fichier:

PDF, 138 KB

english, 2017

34

Inadequate Laboratory Technique for Amino Acid Analysis Resulting in Missed Diagnoses of Homocystinuria

Smith, Kameo L, Bradley, Loetta, Levy, Harvey L, Korson, Mark S

Journal:

Clinical Chemistry

Année:

1998

Fichier:

PDF, 270 KB

1998