Search Results - "Burton BK"

Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme])

Authors: Kim KH Decker C Burton BK

Source: Pediatrics. Mar2008, Vol. 121 Issue 3, pe714-7. 1p.

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.

Authors: Muenzer J Burton BK Harmatz P et al.

Source: JIMD reports [JIMD Rep] 2026 Feb 22; Vol. 67 (2), pp. e12443. Date of Electronic Publication: 2026 Feb 22 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

Authors: Burton BK Amartino H Giugliani R et al.

Source: JIMD reports [JIMD Rep] 2025 Dec 02; Vol. 67 (1), pp. e70046. Date of Electronic Publication: 2025 Dec 02 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Natural History of Sensorineural Hearing Loss in Children With STRC Mutations.

Authors: Chan KH Nightengale EE Ekhteraei S et al.

Source: The Laryngoscope [Laryngoscope] 2026 Jun; Vol. 136 (6), pp. 2784-2791. Date of Electronic Publication: 2026 Feb 02.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 8607378 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-4995 (Electronic) Linking ISSN: 0023852X NLM ISO Abbreviation: Laryngoscope Subsets: MEDLINE

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.

Authors: Longo N Burton BK Vaghela S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 May; Vol. 49 (3), pp. e70194.

Publication Type: Journal Article

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: MEDLINE

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).

Authors: Stepien KM Burton BK Bober MB et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Oct 30; Vol. 20 (1), pp. 548. Date of Electronic Publication: 2025 Oct 30.

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

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

Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis.

Authors: Vucko ER Arduini K Becker K et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Aug; Vol. 148 (4), pp. 110153. Date of Electronic Publication: 2026 May 29.

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

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Authors: Muenzer J Amartino H Giugliani R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 01; Vol. 20 (1), pp. 319. Date of Electronic Publication: 2025 Jul 01.

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

Environmental and Genetic Influences on Developmental Outcomes Across the Domains of Language, Cognition, Motor Function, and Social Behavior.

Authors: Schiavon M Burton BK Hemager N et al.

Source: The European journal of neuroscience [Eur J Neurosci] 2025 Jun; Vol. 61 (12), pp. e70163.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: France NLM ID: 8918110 Publication Model: Print Cited Medium: Internet ISSN: 1460-9568 (Electronic) Linking ISSN: 0953816X NLM ISO Abbreviation: Eur J Neurosci Subsets: MEDLINE

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

Authors: Muenzer J Burton BK Harmatz P et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 May; Vol. 48 (3), pp. e12790. Date of Electronic Publication: 2024 Sep 09.

Publication Type: Clinical Trial, Phase II; Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial

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

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Authors: Schwahn BC Berry GT Vernon HJ et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 09; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 09.

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

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.

Authors: Burton BK Guffon N Roberts J et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109734. Date of Electronic Publication: 2026 Jan 12.

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

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.

Authors: de Souza CFM Burton BK Campeau PM et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2026 Jan 21; Vol. 46, pp. 101290. Date of Electronic Publication: 2026 Jan 21 (Print Publication: 2026).

Publication Type: 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

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Authors: Smith WE Berry SA Bloom K et al.

Corporate Authors: Smith WE Berry SA Bloom K et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101602.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

Response to Burgard et al.

Authors: Smith WE Burton BK Brown C et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jan; Vol. 28 (1), pp. 101601.

Publication Type: Letter

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

Authors: Muenzer J Burton BK Harmatz P et al.

Source: The New England journal of medicine [N Engl J Med] 2026 Jan 01; Vol. 394 (1), pp. 39-50.

Publication Type: Journal Article; Clinical Trial, Phase II; Clinical Trial, Phase I; Multicenter Study

Journal Info: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Examining expressed maternal warmth and criticism in schizophrenia and bipolar disorder and their relations with child mental health compared to population-based controls.

Authors: Pedersen AM Holm T Thomsen DK et al.

Source: Development and psychopathology [Dev Psychopathol] 2025 Dec 09, pp. 1-11. Date of Electronic Publication: 2025 Dec 09.

Publication Type: Journal Article

Journal Info: Publisher: Cambridge University Press Country of Publication: United States NLM ID: 8910645 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-2198 (Electronic) Linking ISSN: 09545794 NLM ISO Abbreviation: Dev Psychopathol Subsets: MEDLINE

Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.

Authors: Muenzer J Botha J Amartino H et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Dec; Vol. 146 (4), pp. 109284. Date of Electronic Publication: 2025 Nov 02.

Publication Type: Journal Article; Multicenter Study; Observational Study

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

Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus.

Authors: Burton BK Ellinwood NM Hoffman KK et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Dec; Vol. 146 (4), pp. 109285. Date of Electronic Publication: 2025 Nov 12.

Publication Type: Evaluation Study; Journal Article; Consensus Statement

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

Language, Motor Ability and Related Deficits in Children at Familial Risk of Schizophrenia or Bipolar Disorder.

Authors: Schiavon M Burton BK Hemager N et al.

Source: Schizophrenia bulletin [Schizophr Bull] 2025 Nov 10; Vol. 51 (6), pp. 1555-1567.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0236760 Publication Model: Print Cited Medium: Internet ISSN: 1745-1701 (Electronic) Linking ISSN: 05867614 NLM ISO Abbreviation: Schizophr Bull Subsets: MEDLINE