Search Results - "Summar ML"

Neonatal pulmonary hypertension: urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

Authors: Pearson DL Dawling S Walsh WF et al.

Source: New England Journal of Medicine. 06/14/2001, Vol. 344 Issue 24, p1832-1838. 7p.

The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient-as-Own-Control Designs.

Authors: Summar ML Woodcock J

Source: Clinical and translational science [Clin Transl Sci] 2026 May; Vol. 19 (5), pp. e70550.

Publication Type: Journal Article; Review

Journal Info: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial.

Authors: Summar ML Woodcock J

Source: Clinical and translational science [Clin Transl Sci] 2026 May; Vol. 19 (5), pp. e70551.

Publication Type: Journal Article; Review

Journal Info: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Authors: Molema F Gleich F Burgard P et al.

Corporate Authors: Molema F Gleich F Burgard P et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Nov; Vol. 42 (6), pp. 1162-1175. Date of Electronic Publication: 2019 Feb 27.

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Association of citrulline concentration at birth with lower respiratory tract infection in infancy: Findings from a multi-site birth cohort study.

Authors: Snyder BM Gebretsadik T Turi KN et al.

Corporate Authors: Snyder BM Gebretsadik T Turi KN et al.

Source: Frontiers in pediatrics [Front Pediatr] 2022 Oct 17; Vol. 10, pp. 979777. Date of Electronic Publication: 2022 Oct 17 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study.

Authors: Regier DS Weaver JA Cheng N et al.

Source: Translational science of rare diseases [Transl Sci Rare Dis] 2022 Apr 13; Vol. 6 (1-2), pp. 1-11. Date of Electronic Publication: 2022 Apr 13 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101695348 Publication Model: eCollection Cited Medium: Print ISSN: 2214-6490 (Print) NLM ISO Abbreviation: Transl Sci Rare Dis Subsets: PubMed not MEDLINE

Malignancy in Noonan syndrome and related disorders.

Authors: Smpokou P Zand DJ Rosenbaum KN et al.

Source: Clinical genetics [Clin Genet] 2015 Dec; Vol. 88 (6), pp. 516-22. Date of Electronic Publication: 2015 Mar 04.

Publication Type: Journal Article; Review

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors: Kölker S Valayannopoulos V Burlina AB et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1157-8.

Publication Type: Published Erratum

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors: Kölker S Garcia-Cazorla A Valayannopoulos V et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1041-57. Date of Electronic Publication: 2015 Apr 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors: Kölker S Valayannopoulos V Burlina AB et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1059-74. Date of Electronic Publication: 2015 Apr 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors: Kölker S Cazorla AG Valayannopoulos V et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1155-6.

Publication Type: Published Erratum

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

Authors: Wu P Larkin EK Reiss SS et al.

Source: BMC medical genetics [BMC Med Genet] 2015 Sep 14; Vol. 16, pp. 82. Date of Electronic Publication: 2015 Sep 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Authors: Li Z Schonberg R Guidugli L et al.

Source: Journal of human genetics [J Hum Genet] 2015 Jul; Vol. 60 (7), pp. 363-9. Date of Electronic Publication: 2015 Mar 26.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis.

Authors: Ware LB Magarik JA Wickersham N et al.

Source: Critical care (London, England) [Crit Care] 2013 Jan 17; Vol. 17 (1), pp. R10. Date of Electronic Publication: 2013 Jan 17.

Publication Type: Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 9801902 Publication Model: Electronic Cited Medium: Internet ISSN: 1466-609X (Electronic) Linking ISSN: 13648535 NLM ISO Abbreviation: Crit Care Subsets: MEDLINE

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

Authors: Chapman KA Summar ML Enns GM

Source: Pediatric transplantation [Pediatr Transplant] 2012 May; Vol. 16 (3), pp. 209-10. Date of Electronic Publication: 2012 Feb 15.

Publication Type: Editorial

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE

Shift work in nurses: contribution of phenotypes and genotypes to adaptation.

Authors: Gamble KL Motsinger-Reif AA Hida A et al.

Source: PloS one [PLoS One] 2011 Apr 13; Vol. 6 (4), pp. e18395. Date of Electronic Publication: 2011 Apr 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Authors: Wongkittichote P Cunningham G Summar ML et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2019 Dec; Vol. 128 (4), pp. 444-451. Date of Electronic Publication: 2019 Oct 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.

Authors: Ananthakrishnan M Barr FE Summar ML et al.

Source: American journal of physiology. Lung cellular and molecular physiology [Am J Physiol Lung Cell Mol Physiol] 2009 Sep; Vol. 297 (3), pp. L506-11. Date of Electronic Publication: 2009 Jul 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901229 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1504 (Electronic) Linking ISSN: 10400605 NLM ISO Abbreviation: Am J Physiol Lung Cell Mol Physiol Subsets: MEDLINE

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

Authors: Summar ML Dobbelaere D Brusilow S et al.

Source: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2008 Oct; Vol. 97 (10), pp. 1420-5. Date of Electronic Publication: 2008 Jul 17.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0803-5253 (Print) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle.

Authors: Moore PE Cunningham G Calder MM et al.

Source: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2006 Nov; Vol. 35 (5), pp. 559-64. Date of Electronic Publication: 2006 Jun 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1044-1549 (Print) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE