Marshall Summar : rechercher sur Z-Library

Campagne de collecte 15 septembre 2024 – 1 octobre 2024 C'est quoi, la collecte de fonds?

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Campagne de collecte 15 septembre 2024 – 1 octobre 2024

Z-Library est une des plus grandes bibliothèques en ligne dans le monde, avec le stockage de plus de 17,000,000 livres et plus de 84,837,000 articles. Nous encourageons l'accès libre de chacun à la littérature. Aujourd'hui (15 septembre 2024) nous faisons un appel de fonds à tous ceux qui veulent contribuer encore plus au soutien et au développement de notre projet.

Les téléchargements SANS LIMITE sont aussi (au cours de 31 jours après la date de don) disponibles pour TOUS les utilisateurs qui soient en mesure de soutenir le projet pendant la période de collecte de fonds jusqu'au 1 octobre 2024.

C'est quoi, la collecte de fonds?En savoir plus

Livres
Articles (99)
Les plus populaires
Liste
- Liste
- Tableau

1

The incidence of urea cycle disorders

Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 119 KB

english, 2013

2

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism

Salmo Raskin, J. D. Cogan, Marshall L. Summar, Adolpho Moreno, M. R. S. Krishnamani, J. A. Phillips III.

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 63 KB

english, 1996

3

Population screening in a Druze community: the challenge and the reward

Falik-Zaccai, Tzipora C, Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L, Khayat, Morad

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 492 KB

english, 2008

4

Inborn Errors of Metabolism with Hyperammonemia

Summar, Marshall L., Mew, Nicholas Ah

Journal:

Pediatric Clinics of North America

Année:

2018

Langue:

english

Fichier:

PDF, 750 KB

english, 2018

5

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

Ljubica Caldovic, Hiroki Morizono, Maria G. Panglao, Giselle Y. Lopez, Dashuang Shi, Marshall L. Summar, Mendel Tuchman

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 307 KB

english, 2005

6

Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma

Paul E. Moore, Kelli K. Ryckman, Scott M. Williams, Neal Patel, Marshall L. Summar, James R. Sheller

Journal:

Pediatric Pulmonology

Année:

2009

Langue:

english

Fichier:

PDF, 82 KB

english, 2009

7

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: A validated genetic association study

Jeffrey A. Canter, Marshall L. Summar, Heidi B. Smith, Geraldine D. Rice, Lynn D. Hall, Marylyn D. Ritchie, Alison A. Motsinger, Karla G. Christian, Davis C. Drinkwater Jr., Frank G. Scholl, Karrie L.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 264 KB

english, 2007

8

Lack of association between autism and four heavy metal regulatory genes

Sarah E. Owens, Marshall L. Summar, Kelli K. Ryckman, Jonathan L. Haines, Sara Reiss, Samantha R. Summar, Michael Aschner

Journal:

NeuroToxicology

Année:

2011

Langue:

english

Fichier:

PDF, 312 KB

english, 2011

9

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Smith, Wendy, Kishnani, Priya S., Lee, Brendan, Singh, Rani H., Rhead, William J., Sniderman King, Lisa, Smith, Michael, Summar, Marshall

Journal:

Critical Care Clinics

Année:

2005

Langue:

english

Fichier:

PDF, 287 KB

english, 2005

10

Considerations in the Difficult-to-Manage Urea Cycle Disorder Patient

Lee, Brendan, Singh, Rani H., Rhead, William J., Sniderman King, Lisa, Smith, Wendy, Summar, Marshall L.

Journal:

Critical Care Clinics

Année:

2005

Langue:

english

Fichier:

PDF, 204 KB

english, 2005

11

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome

Lewanda, Amy Feldman, Matisoff, Andrew, Revenis, Mary, Harahsheh, Ashraf, Futterman, Craig, Nino, Gustavo, Greenberg, Jay, Myseros, John S., Rosenbaum, Kenneth N., Summar, Marshall, von Ungern-Sternbe

Journal:

Pediatric Anesthesia

Année:

2016

Langue:

english

Fichier:

PDF, 157 KB

english, 2016

12

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders

Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique

Journal:

Journal of Inherited Metabolic Disease

Année:

2019

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2019

13

Combined L-citrulline and tetrahydrobiopterin therapy improves NO signaling and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs

Dikalova, Anna, Aschner, Judy L., Kaplowitz, Mark R, Cunningham, Gary, Summar, Marshall, Fike, Candice D.

Journal:

American journal of physiology. Lung cellular and molecular physiology

Année:

2020

Langue:

english

Fichier:

PDF, 2.02 MB

english, 2020

14

Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome (ARCC-NDI)?

Rosalind A. Coleman, Johan L. K. Van Hove, C. Richard Morris, J. Marc Rhoads, Marshall L. Summar

Journal:

American Journal of Medical Genetics Part A

Année:

1997

Langue:

english

Fichier:

PDF, 31 KB

english, 1997

15

Heterogeneity in hereditary pancreatitis

Dasouki, Majed J., Cogan, Joy, Summar, Marshall L., Neblitt, Wallace, Foroud, Tatiana, Koller, Dan, Phillips, John A.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 426 KB

english, 1998

16

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

Dr. Johan L. K. Van Hove, Priya Kishnani, Joseph Muenzer, Richard J. Wenstrup, Marshall L. Summar, Michael R. Brummond, Ave M. Lachiewicz, David S. Millington, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1995

17

Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes

Brian M. Kemp, Tiffiny A. Tung, Marshall L. Summar

Journal:

American Journal of Physical Anthropology

Année:

2009

Langue:

english

Fichier:

PDF, 362 KB

english, 2009

18

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations

Ute Spiekerkoetter, Angela Eeds, Zou Yue, Jonathan Haines, Arnold W. Strauss, Marshall Summar

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 161 KB

english, 2002

19

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

Sabrina Mitchell, Clint Ellingson, Thomas Coyne, Lynn Hall, Meaghan Neill, Natalie Christian, Catherine Higham, Steven F. Dobrowolski, Mendel Tuchman, Marshall Summar

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 143 KB

english, 2009

20

Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy

Hunley, Tracy E, Julian, Bruce A, Phillips, John A, Summar, Marshal L, Yoshida, Hiroaki, Horn, Robert G, Brown, Nancy J, Fogo, Agnes, Ichikawa, Iekuni, Kon, Valentina

Journal:

Kidney International

Année:

1996

Langue:

english

Fichier:

PDF, 810 KB

english, 1996

21

Genes regulating glutathione concentration in X-ray transformed rat embryo fibroblasts: Changes in γ-glutamylcysteine synthetase and γ-glutamyl transpeptidase expression

Michael D. Smith, Elaine Sierra-Rivera, Michael J. Meredith, Marshall L. Summar, Christine M. Stoffel, Michael L. Freeman

Journal:

Free Radical Biology and Medicine

Année:

1993

Langue:

english

Fichier:

PDF, 148 KB

english, 1993

22

Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation

Jeffrey A. Canter, Alex Eshaghian, Joshua Fessel, Marshall L. Summar, Jackson L. Roberts, Jason D. Morrow, James E. Sligh, Jonathan L. Haines

Journal:

Free Radical Biology and Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 223 KB

english, 2005

23

An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro

Truc M. Le, Alecia S. Willis, Jonathan L. Haines, Marshall L. Summar, David N. Cornfield

Journal:

Free Radical Biology and Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 157 KB

english, 2010

24

Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

Heidi A.B. Smith, Jeffrey A. Canter, Karla G. Christian, Davis C. Drinkwater, Frank G. Scholl, Brian W. Christman, Geraldine D. Rice, Frederick E. Barr, Marshall L. Summar

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Année:

2006

Langue:

english

Fichier:

PDF, 239 KB

english, 2006

25

Metabolic basis of pediatric heart disease

Vernat J. Exil, Marshall Summar, Mary Alyson Boles, James Atkinson, James A. Johns, Dietrich Matern, Arnold W. Strauss, Charles E. Canter

Journal:

Progress in Pediatric Cardiology

Année:

2005

Langue:

english

Fichier:

PDF, 561 KB

english, 2005

26

Redox-sensitive interaction between KIAA0132 and Nrf2 mediates indomethacin-induced expression of γ-glutamylcysteine synthetase

Konjeti R Sekhar, Douglas R Spitz, Stephanie Harris, Trung T Nguyen, Michael J Meredith, Jeffrey T Holt, David Guis, Lawrence J Marnett, Marshall L Summar, Michael L Freeman

Journal:

Free Radical Biology and Medicine

Année:

2002

Langue:

english

Fichier:

PDF, 437 KB

english, 2002

27

Ethnic diversity in a critical gene responsible for glutathione synthesis

Alecia S Willis, Michael L Freeman, Samantha R Summar, Frederick E Barr, Scott M Williams, Elliott Dawson, Marshall L Summar

Journal:

Free Radical Biology and Medicine

Année:

2003

Langue:

english

Fichier:

PDF, 56 KB

english, 2003

28

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes

Marshall L Summar, Dries Dobbelaere, Saul Brusilow, Brendan Lee

Journal:

Acta Paediatrica

Année:

2008

Langue:

english

Fichier:

PDF, 618 KB

english, 2008

29

Propionic acidemia: To liver transplant or not to liver transplant?

Kimberly A. Chapman, Marshall L. Summar, Gregory M. Enns

Journal:

Pediatric Transplantation

Année:

2012

Langue:

english

Fichier:

PDF, 52 KB

english, 2012

30

Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism

George E. Tiller, Paula A. Polumbo, Marshall L. Summar

Journal:

Année:

1994

Fichier:

PDF, 133 KB

1994

31

Molecular Cloning, Sequencing, Chromosomal Localization, and Tissue Distribution of the Human Na+/H+Exchanger (SLC9A2)

FAYEZ K. GHISHAN, SUSAN M. KNOBEL, MARSHALL SUMMAR

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 226 KB

english, 1995

32

Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture

Zhaobao Yin, Jan Albrecht, Tore Syversen, Haiyan Jiang, Marshall Summar, Joao B.T. Rocha, Marcelo Farina, Michael Aschner

Journal:

Neurochemistry International

Année:

2009

Langue:

english

Fichier:

PDF, 375 KB

english, 2009

33

γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo

Truc M. Le, Haiyan Jiang, Gary R. Cunningham, Jordan A. Magarik, William S. Barge, Marilyn C. Cato, Marcelo Farina, Joao B.T. Rocha, Dejan Milatovic, Eunsook Lee, Michael Aschner, Marshall L. Summar

Journal:

NeuroToxicology

Année:

2011

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2011

34

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I

Marshall L Summar, Lynn Hall, Brian Christman, Frederick Barr, Heidi Smith, Asha Kallianpur, Nancy Brown, Meeta Yadav, Alecia Willis, Angela Eeds, Emma Cermak, Samantha Summar, Ann Wilson, Molly Arvin

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 275 KB

english, 2004

35

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

Jason H. Moore, Erik M. Boczko, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 416 KB

english, 2005

36

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Mendel Tuchman, Brendan Lee, Uta Lichter-Konecki, Marshall L. Summar, Marc Yudkoff, Stephen D. Cederbaum, Douglas S. Kerr, George A. Diaz, Margaretta R. Seashore, Hye-Seung Lee, Robert J. McCarter, Je

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 936 KB

english, 2008

37

Attitudes regarding vaccination among practitioners of clinical biochemical genetics

Bruce A. Barshop, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 133 KB

english, 2008

38

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues

Meaghan Anne Neill, Judy Aschner, Frederick Barr, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 527 KB

english, 2009

39

Propionic acidemia consensus conference summary

Kimberly A. Chapman, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 106 KB

english, 2012

40

Neurologic considerations in propionic acidemia

John Schreiber, Kimberly A. Chapman, Marshall L. Summar, Nicholas Ah Mew, V. Reid Sutton, Erin MacLeod, Kathy Stagni, Keiko Ueda, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 244 KB

english, 2012

41

Chronic management and health supervision of individuals with propionic acidemia

V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Sm

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 230 KB

english, 2012

42

Acute management of propionic acidemia

Kimberly A. Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2012

43

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders

Sabrina Mitchell, Teresa Welch-Burke, Logan Dumitrescu, Jefferson P. Lomenick, Deborah G. Murdock, Dana C. Crawford, Marshall Summar

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 234 KB

english, 2012

44

Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy

Holly A Ishmael, Linda M Pasztor, Paul G Rothberg, Merlin G Butler, jean Pfotenbauer, Vickie Hannig, Marshall Summar

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 638 KB

english, 2000

45

Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia

Marshall Summar, John Pietsch, Jayant Deshpande, Gerald Schulman

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 328 KB

english, 1996

46

Current strategies for the management of neonatal urea cycle disorders

Marshall Summar

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 130 KB

english, 2001

47

Proceedings of a Consensus Conference for the Management of Patients with Urea Cycle Disorders

Marshall Summar, Mendel Tuchman

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 103 KB

english, 2001

48

Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery

Frederick E. Barr, Heidi Beverley, Kristin VanHook, Emma Cermak, Karla Christian, Davis Drinkwater, Karrie Dyer, Noel T. Raggio, Jason H. Moore, Brian Christman, Marshall Summar

Journal:

The Journal of Pediatrics

Année:

2003

Langue:

english

Fichier:

PDF, 151 KB

english, 2003

49

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro

Truc M. Le, Alecia S. Willis, Frederick E. Barr, Gary R. Cunningham, Jeffrey A. Canter, Sarah E. Owens, Rachel K. Apple, George Ayodo, David Reich, Marshall L. Summar

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 489 KB

english, 2010

50

Oxidant stress and pulmonary hypertension in congenital heart surgery

Karrie L. Dyer, Rick Barr, Marshall Summar, Gary Cunningham, Thomas P. Doyle, Thomas P. Graham, Brian W. Christman

Journal:

Journal of the American College of Cardiology

Année:

2003

Langue:

english

Fichier:

PDF, 206 KB

english, 2003