Search Results - "Burton BK"

The salience of the motor domain in the risk of psychosis - Authors' reply.

Authors: Burton BK Thorup AAE Plessen KJ et al.

Source: The lancet. Psychiatry [Lancet Psychiatry] 2023 May; Vol. 10 (5), pp. 315-316.

Publication Type: Letter; Comment

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101638123 Publication Model: Print Cited Medium: Internet ISSN: 2215-0374 (Electronic) Linking ISSN: 22150366 NLM ISO Abbreviation: Lancet Psychiatry Subsets: MEDLINE

Relational aspects and care-based support in Zero-Deforestation Commitments.

Authors: Chandra, Adelina Grabs, Janina Meemken, Eva-Marie et al.

Source: PLoS Sustainability & Transformation. 5/8/2026, Vol. 5 Issue 5, p1-18. 18p.

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

Authors: Giugliani, Roberto de Siqueira, Ana Cecília Menezes Santos, Emerson Santana et al.

Source: Orphanet Journal of Rare Diseases. 11/26/2024, Vol. 19 Issue 1, p1-6. 6p.

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

The geometry of G × E: How scaling and endogenous treatment effects shape interaction direction.

Authors: Sadowski, Michal Dahl, Andy W. Zaitlen, Noah et al.

Source: PLoS Genetics. 4/1/2026, Vol. 22 Issue 4, p1-23. 23p.

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

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases.

Authors: Akyüz, Ayşe Atalar, Hakan Çilesiz, Kübra et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. Jun2026, Vol. 18 Issue 2, p1-6. 6p.

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.

Authors: Leo, Francesco Barchi, Luca Russo, Giulia et al.

Source: Italian Journal of Pediatrics. 8/22/2025, Vol. 51 Issue 1, p1-6. 6p.

The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.

Authors: Hahn, Seung Min Kim, Minseok Kim, Youna et al.

Source: Orphanet Journal of Rare Diseases. 11/10/2025, Vol. 20 Issue 1, p1-9. 9p.

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

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, Karolina M. Burton, Barbara K. Bober, Michael B. et al.

Source: Orphanet Journal of Rare Diseases. 10/30/2025, Vol. 20 Issue 1, p1-10. 10p.

Validation of sleep-wake estimation from thigh-worn accelerometers against polysomnography in adolescents with and without mental disorders.

Authors: Wilms, Martin Søndergaard, Anne Jennum, Poul Jørgen et al.

Source: BMC Psychiatry. 10/15/2025, Vol. 25 Issue 1, p1-12. 12p.

SAGPEK: fast and flexible approach to identify genotypes of Sanger sequencing data.

Authors: Wang, Jinpeng Sun, Shuo Zhang, Yaran et al.

Source: BMC Bioinformatics. 10/14/2025, Vol. 26 Issue 1, p1-11. 11p.

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Authors: Balci, Mehmet Cihan Kor, Deniz Yildiz, Yilmaz et al.

Source: Orphanet Journal of Rare Diseases. 8/4/2025, Vol. 20 Issue 1, p1-11. 11p.

Effects of exercise conducted prior to phenylketonuria-type meal on appetite, satiety hormones and energy expenditure: a randomised cross-over trial.

Authors: Alghamdi, Nouf A. Dorling, James L. Alreshidi, Abdulrahman et al.

Source: European Journal of Clinical Nutrition. Dec2025, Vol. 79 Issue 12, p1197-1203. 7p.

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.

Authors: Blin, Mélanie Tardieu, Marine Lacombe, Didier et al.

Source: Orphanet Journal of Rare Diseases. 11/12/2025, Vol. 20 Issue 1, p1-10. 10p.

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.

Authors: Mungai, Lucy N. Wainaina Njeru, Charles Njoroge, Allan et al.

Source: Orphanet Journal of Rare Diseases. 11/4/2025, Vol. 20 Issue 1, p1-11. 11p.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Authors: Onuki, Takanori Tajika, Makiko Sugiyama, Yohei et al.

Source: Orphanet Journal of Rare Diseases. 7/24/2025, Vol. 20 Issue 1, p1-9. 9p.

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II.

Authors: Shamoun, Alex J. Reis, Gisienne Ashley, Malaica et al.

Source: PLoS ONE. 6/26/2025, Vol. 20 Issue 6, p1-16. 16p.

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Authors: Köse, Engin İnci, Aslı Yazıcı, Havva et al.

Source: European Journal of Pediatrics. Jun2025, Vol. 184 Issue 6, p1-8. 8p.