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

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.

Genetic mosaicism – importance of clinical features to improve diagnosis.

Authors: Daschkey, Svenja Dietzel-Dahmen, Jutta Drechsler, Matthias et al.

Source: Journal of Rare Diseases. 2/23/2026, Vol. 5 Issue 1, p1-11. 11p.

Gaucher disease: the hematologist's perspective of a multisystemic disorder.

Authors: Costa A Mulas O Caocci G

Source: Annals of hematology [Ann Hematol] 2026 May 20; Vol. 105 (8). Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article; Review; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol 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

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

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

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Authors: Kilavuz, Sebile Wallom, Kerri-Lee Caçote, Ana Catarina Gomes Almeida Augusto et al.

Source: Orphanet Journal of Rare Diseases. 11/18/2025, Vol. 20 Issue 1, p1-16. 16p.

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.

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

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Authors: Camou, Fabrice Serratrice, Christine Pettazzoni, Magali et al.

Source: Orphanet Journal of Rare Diseases. 10/27/2025, Vol. 20 Issue 1, p1-25. 25p.

Congenital and Acquired Choanal Atresia: A Comprehensive Case Series on the Diagnosis and Contemporary Management.

Authors: Gupta, Vikas Raj, Poonam Gupta, D. K. et al.

Source: Indian Journal of Otolaryngology & Head & Neck Surgery (Springer Nature). Aug2025, Vol. 77 Issue 8, p3206-3212. 7p.

Balloon Dilatation for Congenital Nasal Pyriform Aperture Stenosis: A Novel Minimally Invasive Technique.

Authors: Menon, Adithi Lal, Radhika Raman, E. V. et al.

Source: Indian Journal of Otolaryngology & Head & Neck Surgery (Springer Nature). Jan2025, Vol. 77 Issue 1, p487-490. 4p.

Glucocerebrosidase deficiency leads to neuropathology via cellular immune activation.

Authors: Vincow, Evelyn S. Thomas, Ruth E. Milstein, Gillian et al.

Source: PLoS Genetics. 11/11/2024, Vol. 20 Issue 11, p1-34. 34p.

A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.

Authors: Badv, Reza Shervin Shariatmadari, Fakhreddin Bayat, Shiva et al.

Source: Egyptian Journal of Medical Human Genetics. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.

Genetics and phenotypic heterogeneity of Galloway–Mowat syndrome.

Authors: Huang, Limin Wang, Yanfei Zhang, Yingying et al.

Source: Cell Communication & Signaling. 6/18/2025, Vol. 23 Issue 1, p1-10. 10p.

Immune Thrombocytopenic Purpura in Patients with Inborn Errors of Immunity: A Narrative Review.

Authors: Khalili, Abbas^1,2,3 abbas_khalili_30@yahoo.com

Source: Iranian Journal of Pediatric Hematology & Oncology. 2026, Vol. 16 Issue 2, p868-878. 11p.

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Authors: Kim, Eun Na Do, Hyo‐Sang Jeong, Hwangkyo et al.

Source: Clinical & Translational Medicine. May2022, Vol. 12 Issue 5, p1-7. 7p.

Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations.

Authors: Peng, Peng Pan, Ying Lu, Xueqing et al.

Source: Platelets. 2023, Vol. 34 Issue 1, p1-4. 4p.

Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.

Authors: Schiffmann, Raphael Turnbull, James Krupnick, Robert et al.

Source: Orphanet Journal of Rare Diseases. 4/10/2025, Vol. 20 Issue 1, p1-12. 12p.