Search Results - "Burrow TA"

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.

Authors: Martakis K Abreu NJ Baker JJ et al.

Source: Journal of neurology [J Neurol] 2026 Jul 17; Vol. 273 (8). Date of Electronic Publication: 2026 Jul 17.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

Authors: Furuta Y Rives LC Burrow TA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 27. Date of Electronic Publication: 2026 Apr 27.

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

The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

Authors: Mistry PK Carwile JL Burrow TA et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 11; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).

Authors: McDonnell C Hove HB Irving M et al.

Source: Hormone research in paediatrics [Horm Res Paediatr] 2026 Jan 08, pp. 1-12. Date of Electronic Publication: 2026 Jan 08.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Prevalence of alternative lengthening of telomeres in pediatric sarcomas determined by the telomeric DNA C-circle assay.

Authors: Burrow TA Koneru B Macha SJ et al.

Source: Frontiers in oncology [Front Oncol] 2024 Aug 19; Vol. 14, pp. 1399442. Date of Electronic Publication: 2024 Aug 19 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

Authors: Roach AN Barkley H Rodriquez C et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Aug; Vol. 33 (8), pp. 1080-1083. Date of Electronic Publication: 2024 Dec 11.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Correction: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.

Authors: Roach AN Barkley H Rodriquez C et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Aug; Vol. 33 (8), pp. 1084.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.

Authors: Guzman SG Ruggiero SM Ganesan S et al.

Corporate Authors: Guzman SG Ruggiero SM Ganesan S et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1415-1429. Date of Electronic Publication: 2025 May 19.

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

Correction: Alternative Lengthening of Telomeres in Cancer Confers a Vulnerability to Reactivation of p53 Function.

Authors: Macha SJ Koneru B Burrow TA et al.

Source: Cancer research [Cancer Res] 2025 May 02; Vol. 85 (9), pp. 1738.

Publication Type: Published Erratum

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE; PubMed not MEDLINE

Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3.

Authors: Dutta D Black J Montoya EA et al.

Source: Journal of medical genetics [J Med Genet] 2025 Mar 20; Vol. 62 (4), pp. 268-275. Date of Electronic Publication: 2025 Mar 20.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Authors: Guzman SG Ruggiero SM Ganesan S et al.

Corporate Authors: Guzman SG Ruggiero SM Ganesan S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Feb 12. Date of Electronic Publication: 2025 Feb 12.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

Authors: Hannah WB Ryan K Pendyal S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3364-3368. Date of Electronic Publication: 2022 Aug 16.

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

ALT neuroblastoma chemoresistance due to telomere dysfunction-induced ATM activation is reversible with ATM inhibitor AZD0156.

Authors: Koneru B Farooqi A Nguyen TH et al.

Source: Science translational medicine [Sci Transl Med] 2021 Aug 18; Vol. 13 (607).

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

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Authors: Abell K Chadwell SE Burrow TA et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 1052-1059. Date of Electronic Publication: 2020 Dec 05.

Publication Type: Journal Article

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

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Authors: Koch RL Soler-Alfonso C Kiely BT et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107525. Date of Electronic Publication: 2023 Jan 25.

Publication Type: Journal Article; Review

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

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Authors: Metz KA Teng X Coppens I et al.

Source: Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 766-780. Date of Electronic Publication: 2018 Nov 08.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

Alternative Lengthening of Telomeres in Cancer Confers a Vulnerability to Reactivation of p53 Function.

Authors: Macha SJ Koneru B Burrow TA et al.

Source: Cancer research [Cancer Res] 2022 Sep 16; Vol. 82 (18), pp. 3345-3358.

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

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Authors: Powell AW Taylor MD Burrow TA et al.

Source: Texas Heart Institute journal [Tex Heart Inst J] 2017 Dec 19; Vol. 44 (6), pp. 420-423. Date of Electronic Publication: 2017 Dec 19 (Print Publication: 2017).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: published in the Cardiovascular Surgical Research Laboratories, Texas Heart Institute Country of Publication: United States NLM ID: 8214622 Publication Model: eCollection Cited Medium: Internet ISSN: 1526-6702 (Electronic) Linking ISSN: 07302347 NLM ISO Abbreviation: Tex Heart Inst J Subsets: MEDLINE

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Authors: Mistry PK Batista JL Andersson HC et al.

Source: American journal of hematology [Am J Hematol] 2017 Sep; Vol. 92 (9), pp. 929-939. Date of Electronic Publication: 2017 Jul 07.

Publication Type: Clinical Trial; Journal Article; Multicenter Study

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Authors: Weinreb NJ Goker-Alpan O Kishnani PS et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2022 May; Vol. 136 (1), pp. 4-21. Date of Electronic Publication: 2022 Mar 09.

Publication Type: Journal Article; Review

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