Search Results - "Chapman KA"

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Authors: Buraniqi E Lee HT Sen K et al.

Source: Journal of child neurology [J Child Neurol] 2026 Jul; Vol. 41 (6), pp. 878-882. Date of Electronic Publication: 2025 Nov 12.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.

Authors: Chapman KA Ah Mew N Mickle N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Dec; Vol. 146 (4), pp. 109289. Date of Electronic Publication: 2025 Nov 09.

Publication Type: Journal Article

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

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Authors: Chapman KA Ullah F Yahiku ZA et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2381-2401. Date of Electronic Publication: 2025 Aug 29.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.

Authors: Guzman H Yazdani S Harmon JL et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Nov 01; Vol. 14, pp. 1268135. Date of Electronic Publication: 2023 Nov 01 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.

Authors: Vockley J Burton BK Berry G et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 943-955. Date of Electronic Publication: 2023 Jun 19.

Publication Type: Clinical Trial; 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

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Authors: Boy N Mühlhausen C Maier EM et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 May; Vol. 46 (3), pp. 482-519. Date of Electronic Publication: 2022 Nov 17.

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

Bioconcentration, maternal transfer, and toxicokinetics of PFOS in a multi-generational zebrafish exposure.

Authors: Gust KA Kimble AN Mylroie JE et al.

Source: Environmental toxicology and chemistry [Environ Toxicol Chem] 2025 Jan 01; Vol. 44 (1), pp. 207-219.

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

Journal Info: Publisher: SETAC Press Country of Publication: England NLM ID: 8308958 Publication Model: Print Cited Medium: Internet ISSN: 1552-8618 (Electronic) Linking ISSN: 07307268 NLM ISO Abbreviation: Environ Toxicol Chem Subsets: MEDLINE

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

Authors: Mütze U Gleich F Barić I et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 220-231. Date of Electronic Publication: 2022 Nov 14.

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

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Authors: Billington CJ Jr Chapman KA Leon E et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Sep; Vol. 188 (9), pp. 2738-2749. Date of Electronic Publication: 2022 Jul 07.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Authors: Yverneau M Leroux S Imbard A et al.

Corporate Authors: Yverneau M Leroux S Imbard A et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 848-861. Date of Electronic Publication: 2022 May 09.

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

Exploring Primary Care Non-Attendance: A Study of Low-Income Patients.

Authors: Chapman KA Machado SS van der Merwe K et al.

Source: Journal of primary care & community health [J Prim Care Community Health] 2022 Jan-Dec; Vol. 13, pp. 21501319221082352.

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

Journal Info: Publisher: Sage Publications Country of Publication: United States NLM ID: 101518419 Publication Model: Print Cited Medium: Internet ISSN: 2150-1327 (Electronic) Linking ISSN: 21501319 NLM ISO Abbreviation: J Prim Care Community Health Subsets: MEDLINE

Survival, Growth, and Reproduction Responses in a Three-Generation Exposure of the Zebrafish (Danio rerio) to Perfluorooctane Sulfonate.

Authors: Gust KA Mylroie JE Kimble AN et al.

Source: Environmental toxicology and chemistry [Environ Toxicol Chem] 2024 Jan; Vol. 43 (1), pp. 115-131. Date of Electronic Publication: 2023 Nov 29.

Publication Type: Journal Article

Journal Info: Publisher: SETAC Press Country of Publication: England NLM ID: 8308958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-8618 (Electronic) Linking ISSN: 07307268 NLM ISO Abbreviation: Environ Toxicol Chem Subsets: MEDLINE

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Authors: Forny P Hörster F Ballhausen D et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 566-592. Date of Electronic Publication: 2021 Mar 09.

Publication Type: Journal Article; Practice Guideline; 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

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

Authors: Summerlin ML Regier DS Fraser JL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 500-507. Date of Electronic Publication: 2020 Dec 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Authors: Xiao C Astiazaran-Symonds E Basu S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2426-2431. Date of Electronic Publication: 2020 Aug 17.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Dental complications in homocystinurias.

Authors: Chapman KA Bartke D Vogel-Farley V et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Aug 14; Vol. 36, pp. 100999. Date of Electronic Publication: 2023 Aug 14 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Genetic considerations for adults with congenital heart disease.

Authors: Ito S Chapman KA Kisling M et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Mar; Vol. 184 (1), pp. 149-153. Date of Electronic Publication: 2020 Feb 13.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet 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