Search Results - "Huizing M"

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report.

Authors: Akbulut, Akın Yaylak, Doruk Sincer, Yasemin et al.

Source: Turkish Journal of Anaesthesiology & Reanimation. 2026, Vol. 54 Issue 3, p221-224. 4p.

Retina-specific long non-coding RNAs associated with inherited retinal disease genes.

Authors: Delanote E Ruiz-Ceja KA Dueñas Rey A et al.

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.

Authors: Hackbarth ME Hossain MS Sabir MS et al.

Source: Disease models & mechanisms [Dis Model Mech] 2026 Jul 01; Vol. 19 (7). Date of Electronic Publication: 2026 Jul 27.

Publication Type: Journal Article

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.

Authors: Sabir MS Hossain MS Pollard L et al.

Source: Experimental neurology [Exp Neurol] 2026 May; Vol. 399, pp. 115665. Date of Electronic Publication: 2026 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

Genetic Diagnosis and Discovery Enabled by Large Language Models.

Authors: Tu, Tao Saab, Khaled Liu, Weida et al.

Source: Advanced Science. 4/17/2026, Vol. 13 Issue 22, p1-14. 14p.

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Authors: Sabir MS Pollard L Wolfe L et al.

Source: JIMD reports [JIMD Rep] 2025 Jun 16; Vol. 66 (4), pp. e70029. Date of Electronic Publication: 2025 Jun 16 (Print Publication: 2025).

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

Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration.

Authors: Visibelli, Anna Finetti, Rebecca Roncaglia, Bianca et al.

Source: Bioengineering (Basel). Jun2026, Vol. 13 Issue 6, p604. 13p.

Variations in DNA Methylation Are Landmarks of Freshwater Adaptation in Three-Spined Sticklebacks.

Authors: Starshin, Alexey Mazur, Alexandr Mugue, Nikolai et al.

Source: International Journal of Molecular Sciences. May2026, Vol. 27 Issue 10, p4265. 15p.

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

Authors: Premkumar, Subramanian Shiva Sankari, Sundar Sandhra, George et al.

Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p474-478. 5p.

The Presentation, Diagnosis, and Management of Autosomal Dominant Common Variable Immunodeficiency Type XII with NFKB1 Mutation and Autoimmune Neutropenia Treated with Allogenic Stem Cell Transplantation.

Authors: Gold, Matthew Kannan, Chandini Schofield, Ashley et al.

Source: Hematology Reports. Oct2025, Vol. 17 Issue 5, p49. 8p.

Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome.

Authors: Bahadoran, Ensiyeh Ramezani, Mehrzad Moghbelinejad, Sahar

Source: Egyptian Journal of Medical Human Genetics. 8/2/2025, Vol. 26 Issue 1, p1-6. 6p.

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.

Authors: Sabir MS Makarious MB Huizing M et al.

Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2025 May; Vol. 134, pp. 107790. Date of Electronic Publication: 2025 Mar 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

Authors: Sabir MS Dobrenis K Rha AK et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 08; Vol. 45, pp. 101275. Date of Electronic Publication: 2025 Nov 08 (Print Publication: 2025).

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

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India.

Authors: Halder, Tamali Joshi, Deepika Das, Parimal

Source: Journal of Rare Diseases. 4/6/2026, Vol. 5 Issue 1, p1-8. 8p.

Tubular Epithelia-Specific Deletion of MCP-1 Does Not Afford Protection Against Adriamycin-Induced Kidney Injury.

Authors: Bondi, Corry D. Hartman, Hannah L. Gilbert, Josie L. et al.

Source: International Journal of Molecular Sciences. Mar2026, Vol. 27 Issue 5, p2432. 14p.

Genetically Modified Lactococcus lactis Hypersecreting IL‐1Ra Improves Glucose Metabolism and Modulates the Gut Microbiota in an Obese Mouse Model.

Authors: Yoda, Masahiro Nomura, Natsumi Yoda, Shoko et al.

Source: Journal of Diabetes Research. 2/1/2026, Vol. 2026, p1-12. 12p.

Alternative Dosing Strategies to Enhance the Absorption of N-Acetyl-D-Mannosamine Monohydrate (ManNAc) in Healthy Adult Males.

Authors: Meola TR La Fontaine K Condon J et al.

Source: Clinical drug investigation [Clin Drug Investig] 2026 May; Vol. 46 (5), pp. 531-540. Date of Electronic Publication: 2026 Mar 28.

Publication Type: Journal Article; Randomized Controlled Trial

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9504817 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1918 (Electronic) Linking ISSN: 11732563 NLM ISO Abbreviation: Clin Drug Investig Subsets: MEDLINE

A new external jugular venipuncture technique for efficient vascular access that exploits a murine anatomical variation.

Authors: Yamauchi, Suguru Gurau, Andrei Ecoff, Kaitlyn et al.

Source: PLoS ONE. 9/25/2025, Vol. 20 Issue 9, p1-15. 15p.

A 29‐Year‐Old Man With Type 2 Hermansky–Pudlak Syndrome and Wolff–Parkinson–White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.

Authors: Alcidi, Riccardo Campanella, Tommaso Curcio, Rosa et al.

Source: Case Reports in Medicine. 4/22/2025, Vol. 2025, p1-5. 5p.

Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.

Authors: Alhomayin, Lama Abdullah Alharbi, Abdullah Rashed Nadama, Ahmed Rufai et al.

Source: American Journal of Case Reports. 3/11/2025, Vol. 26, p1-5. 5p.