Search Results - "STORAGE"

Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.

Authors: Kalkan Uçar S Elek A Yazıcı H et al.

Source: European journal of clinical nutrition [Eur J Clin Nutr] 2025 Aug; Vol. 79 (8), pp. 723-730. Date of Electronic Publication: 2025 Apr 10.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8804070 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5640 (Electronic) Linking ISSN: 09543007 NLM ISO Abbreviation: Eur J Clin Nutr Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease*/diet therapy , Glycogen Storage Disease*/genetics , Glycogen Storage Disease Type VI*/diet therapy , Glycogen Storage Disease Type VI*/genetics, Humans ; Retrospective Studies ; Male ; Female ; Child ; Child, Preschool ; Phenotype ; Adolescent ; Nutritional Status ; Infant ; Glycogen Storage Disease Type I

SCR Disease Name: Hepatorenal form of glycogen storage disease

[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].

Authors: Su XY Zhao XY Huang YL et al.

Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Jun 02; Vol. 63 (6), pp. 620-624.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/epidemiology , Mass Screening*/methods, Humans ; Male ; Female ; Child, Preschool ; Cross-Sectional Studies ; China/epidemiology ; Child ; Mucopolysaccharidoses/diagnosis ; Mucopolysaccharidoses/epidemiology ; Infant ; Glycogen Storage Disease/diagnosis ; Glycogen Storage Disease/epidemiology ; Mucolipidoses/diagnosis ; Mucolipidoses/epidemiology ; Sphingolipidoses/diagnosis ; Sphingolipidoses/epidemiology ; Lysosomes/enzymology

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Authors: Scarcella M Fecarotta S Alagia M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Feb; Vol. 144 (2), pp. 109008. Date of Electronic Publication: 2024 Dec 31.

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

MeSH Terms: Dried Blood Spot Testing*/methods , Neonatal Screening*/methods , Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/blood , Microfluidics*/methods, Humans ; Infant, Newborn ; Pilot Projects ; Italy ; alpha-Galactosidase/blood ; Female ; Fabry Disease/diagnosis ; Fabry Disease/blood ; Male ; Glycogen Storage Disease Type II/diagnosis ; Glycogen Storage Disease Type II/blood ; alpha-Glucosidases/blood ; Iduronidase/blood ; Gaucher Disease/diagnosis ; Gaucher Disease/blood

Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors: Stiles AR Donti TR Hall PL et al.

Corporate Authors: Stiles AR Donti TR Hall PL et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101242. Date of Electronic Publication: 2024 Nov 04.

Publication Type: Journal Article; Practice Guideline

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

MeSH Terms: Biomarkers* , Lysosomal Storage Diseases*/genetics , Lysosomal Storage Diseases*/diagnosis, Humans ; Fabry Disease/genetics ; Fabry Disease/diagnosis ; Genomics/methods ; Genomics/standards ; Gaucher Disease/diagnosis ; Gaucher Disease/genetics ; Genetics, Medical/standards ; Glycogen Storage Disease Type II/diagnosis ; Glycogen Storage Disease Type II/genetics ; Leukodystrophy, Globoid Cell/genetics ; Leukodystrophy, Globoid Cell/diagnosis ; Psychosine/analogs & derivatives ; United States

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Authors: Kim JH Lee Y Hwang S et al.

Source: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association [Exp Clin Endocrinol Diabetes] 2025 Feb; Vol. 133 (2), pp. 83-91. Date of Electronic Publication: 2024 Oct 17.

Publication Type: Journal Article

Journal Info: Publisher: J.A. Barth Country of Publication: Germany NLM ID: 9505926 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3646 (Electronic) Linking ISSN: 09477349 NLM ISO Abbreviation: Exp Clin Endocrinol Diabetes Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease*/complications , Glycogen Storage Disease*/physiopathology , Endocrine System Diseases*/etiology, Humans ; Female ; Male ; Child ; Adolescent ; Child, Preschool ; Adult ; Infant ; Young Adult ; Middle Aged ; Retrospective Studies ; Glycogen Storage Disease Type I

SCR Disease Name: Hepatorenal form of glycogen storage disease

[Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].

Authors: Liu WW Wang MJ Jin M et al.

Source: Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology [Zhonghua Gan Zang Bing Za Zhi] 2025 Jan 20; Vol. 33 (1), pp. 63-69. Date of Electronic Publication: 2024 Nov 06.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Chongqing yi ke da xue, di 2 lin chuang xue yuan Bing du xing gan yan yan jiu suo Country of Publication: China NLM ID: 9710009 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1007-3418 (Print) Linking ISSN: 10073418 NLM ISO Abbreviation: Zhonghua Gan Zang Bing Za Zhi Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease*/diagnosis , Glycogen Storage Disease*/genetics, Humans ; Male ; Female ; Retrospective Studies ; Follow-Up Studies ; Child, Preschool ; Child ; Prognosis ; Infant ; Glycogen Storage Disease Type I

Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring.

Authors: Gupta A Agarwala A Kalaivani M et al.

Source: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2025 Jan; Vol. 80 (1), pp. 151-162. Date of Electronic Publication: 2024 Nov 01.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8211545 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4801 (Electronic) Linking ISSN: 02772116 NLM ISO Abbreviation: J Pediatr Gastroenterol Nutr Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease*/diet therapy , Glycogen Storage Disease*/therapy , Blood Glucose*/metabolism , Blood Glucose*/analysis , Hypoglycemia* , Blood Glucose Self-Monitoring*/methods, Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; India ; Precision Medicine/methods ; Infant ; Continuous Glucose Monitoring ; Glycogen Storage Disease Type I

SCR Disease Name: Hepatorenal form of glycogen storage disease

Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.

Authors: Wu X Sun Y Yang M

Source: BMC pediatrics [BMC Pediatr] 2025 Oct 06; Vol. 25 (1), pp. 773. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease Type I*/complications , Glycogen Storage Disease Type I*/blood , Growth Disorders*/etiology , Growth Disorders*/blood , Glycogen Storage Disease*/complications , Glycogen Storage Disease*/blood , Glycogen Storage Disease Type III*/complications , Glycogen Storage Disease Type III*/blood, Humans ; Cross-Sectional Studies ; Male ; Female ; Child ; Child, Preschool ; Insulin-Like Growth Factor I/metabolism ; Insulin-Like Growth Factor I/analysis ; Body Height ; Adolescent ; Body Mass Index ; Triglycerides/blood ; Lactic Acid/blood

SCR Disease Name: Hepatorenal form of glycogen storage disease

Target of rapamycin signaling in pea embryos is dependent on glutamine but detached from seed storage protein biosynthesis.

Authors: O'Leary BM Honkanen S Kumari V et al.

Source: The New phytologist [New Phytol] 2025 Dec; Vol. 248 (6), pp. 2833-2849. Date of Electronic Publication: 2025 Oct 15.

Publication Type: Journal Article

Journal Info: Publisher: Wiley on behalf of New Phytologist Trust Country of Publication: England NLM ID: 9882884 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8137 (Electronic) Linking ISSN: 0028646X NLM ISO Abbreviation: New Phytol Subsets: MEDLINE

MeSH Terms: Seeds*/metabolism , Seeds*/drug effects , Seeds*/genetics , Pisum sativum*/metabolism , Pisum sativum*/embryology , Pisum sativum*/genetics , Pisum sativum*/drug effects , Signal Transduction*/drug effects , Glutamine*/metabolism , TOR Serine-Threonine Kinases*/metabolism , Protein Biosynthesis*/drug effects , Seed Storage Proteins*/biosynthesis , Seed Storage Proteins*/metabolism, Abscisic Acid/pharmacology ; Abscisic Acid/metabolism ; Gene Expression Regulation, Plant/drug effects ; Plant Proteins/metabolism ; Arabidopsis/metabolism ; Arabidopsis/genetics

Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.

Authors: Baronio F Biasucci G Candela E et al.

Source: Hormones (Athens, Greece) [Hormones (Athens)] 2025 Dec; Vol. 24 (4), pp. 1209-1216. Date of Electronic Publication: 2025 Aug 28.

Publication Type: Journal Article; Review; Case Reports

Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

MeSH Terms: Phosphorylase Kinase*/genetics , Glycogen Storage Disease*/genetics , Glycogen Storage Disease*/diagnosis , Glycogen Storage Disease*/blood , Blood Glucose*/metabolism, Humans ; Male ; Female ; Retrospective Studies ; Mutation ; Hypoglycemia/genetics ; Adult

SCR Disease Name: Glycogen Storage Disease Type Ix

Unraveling the physicochemical differences among Osborne protein classes via bioinformatics and AI.

Authors: Kwon H Xu Y Xu X et al.

Source: Food research international (Ottawa, Ont.) [Food Res Int] 2025 Dec; Vol. 221 (Pt 2), pp. 117322. Date of Electronic Publication: 2025 Aug 13.

Publication Type: Journal Article

Journal Info: Publisher: Published on behalf of the Canadian Institute of Food Science and Technology by Elsevier Applied Science Country of Publication: Canada NLM ID: 9210143 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7145 (Electronic) Linking ISSN: 09639969 NLM ISO Abbreviation: Food Res Int Subsets: MEDLINE

MeSH Terms: Computational Biology*/methods , Seed Storage Proteins*/chemistry , Seed Storage Proteins*/classification , Artificial Intelligence*, Molecular Dynamics Simulation ; Prolamins/chemistry ; Glutens/chemistry ; Support Vector Machine ; Hydrophobic and Hydrophilic Interactions ; Globulins/chemistry ; Albumins/chemistry

Long-Term Functional Correction of Pompe Disease and Increased α-Glucosidase Expression after Gene Therapy with Novel Combinations of Muscle-Targeted Transcriptional Cis -Regulatory Elements.

Authors: Pham QH Bheemsetty VA Nguyen PA et al.

Source: Human gene therapy [Hum Gene Ther] 2025 Nov; Vol. 36 (21-22), pp. 1423-1440. Date of Electronic Publication: 2025 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: M.A. Liebert Country of Publication: United States NLM ID: 9008950 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-7422 (Electronic) Linking ISSN: 10430342 NLM ISO Abbreviation: Hum Gene Ther Subsets: MEDLINE

MeSH Terms: Glycogen Storage Disease Type II*/therapy , Glycogen Storage Disease Type II*/genetics , Genetic Therapy*/methods , alpha-Glucosidases*/genetics , alpha-Glucosidases*/metabolism , Regulatory Elements, Transcriptional*, Animals ; Mice ; Dependovirus/genetics ; Humans ; Genetic Vectors/genetics ; Genetic Vectors/administration & dosage ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mice, Knockout ; Promoter Regions, Genetic ; Disease Models, Animal

Partial disruption of the Arabidopsis 2S seed storage proteins highlights the essential role of redox homeostasis in seed proteome plasticity and rebalancing.

Authors: Bagaza C Ansaf H Yobi A et al.

Source: Plant science : an international journal of experimental plant biology [Plant Sci] 2025 Nov; Vol. 360, pp. 112714. Date of Electronic Publication: 2025 Aug 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Ireland Country of Publication: Ireland NLM ID: 9882015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2259 (Electronic) Linking ISSN: 01689452 NLM ISO Abbreviation: Plant Sci Subsets: MEDLINE

MeSH Terms: Arabidopsis*/metabolism , Arabidopsis*/genetics , Arabidopsis*/physiology , Seeds*/metabolism , Seeds*/genetics , Proteome*/metabolism , Proteome*/genetics , Seed Storage Proteins*/metabolism , Seed Storage Proteins*/genetics , Arabidopsis Proteins*/metabolism , Arabidopsis Proteins*/genetics, Oxidation-Reduction ; Homeostasis ; Germination

Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.

Authors: Berrios C Gadea R Strenk M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109235. Date of Electronic Publication: 2025 Sep 19.

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

MeSH Terms: Neonatal Screening*/psychology , Parents*/psychology , Lysosomal Storage Diseases*/diagnosis , Lysosomal Storage Diseases*/psychology, Humans ; Infant, Newborn ; Female ; Male ; Adult ; Retrospective Studies ; Anxiety/psychology ; Child ; Prospective Studies ; Longitudinal Studies ; Surveys and Questionnaires ; Infant

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

Authors: Donoghue S Kumble S Wasling P et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64149. Date of Electronic Publication: 2025 Jun 19.

Publication Type: 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

MeSH Terms: Glycogen Storage Disease*/genetics , Glycogen Storage Disease*/pathology , Glycogen Storage Disease*/diagnosis , Glycogen Synthase*/genetics , Glycogen Synthase*/deficiency, Humans ; Male ; Female ; Adult ; Muscle, Skeletal/pathology ; Muscle, Skeletal/metabolism ; Child ; Phenotype ; Middle Aged ; Glycogen/metabolism ; Adolescent ; Pedigree ; Child, Preschool ; Mutation ; Young Adult

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.

Authors: Le Bras A De Lonlay P Attarian S et al.

Corporate Authors: Le Bras A De Lonlay P Attarian S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Oct 31; Vol. 20 (1), pp. 554. Date of Electronic Publication: 2025 Oct 31.

Publication Type: Journal Article; Observational Study

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

MeSH Terms: Glycogen Storage Disease Type II*/economics , Glycogen Storage Disease Type II*/drug therapy , Enzyme Replacement Therapy*/economics, Humans ; Female ; Male ; France ; Adult ; Middle Aged ; Databases, Factual ; Adolescent ; Child ; Child, Preschool ; Young Adult ; Aged

Modifications in lipids and storage proteins composition during germination of chia seeds (Salvia hispanica L.).

Authors: Labat V Louis-Mondésir C Hentati S et al.

Source: Food chemistry [Food Chem] 2025 Oct 15; Vol. 489, pp. 144682. Date of Electronic Publication: 2025 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Applied Science Publishers Country of Publication: England NLM ID: 7702639 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7072 (Electronic) Linking ISSN: 03088146 NLM ISO Abbreviation: Food Chem Subsets: MEDLINE

MeSH Terms: Seeds*/chemistry , Seeds*/growth & development , Seeds*/metabolism , Plant Proteins*/metabolism , Plant Proteins*/chemistry , Lipids*/chemistry , Salvia hispanica*/chemistry , Salvia hispanica*/growth & development , Salvia hispanica*/metabolism , Seed Storage Proteins*/chemistry , Seed Storage Proteins*/metabolism , Salvia*/growth & development , Salvia*/chemistry , Salvia*/metabolism, Germination ; Proteomics

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.

Authors: Zhang Y Cui L Gao J et al.

Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2025 Oct 09; Vol. 25 (1), pp. 1056. Date of Electronic Publication: 2025 Oct 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393 (Electronic) Linking ISSN: 14712393 NLM ISO Abbreviation: BMC Pregnancy Childbirth Subsets: MEDLINE

MeSH Terms: Pregnancy Complications*/therapy , Pregnancy Complications*/diagnosis , Pregnancy Complications*/etiology , Pancreatitis*/therapy , Pancreatitis*/etiology , Pancreatitis*/diagnosis , Pancreatitis*/complications , Hypertriglyceridemia*/therapy , Hypertriglyceridemia*/complications , Hypertriglyceridemia*/etiology , Hypertriglyceridemia*/diagnosis , Glycogen Storage Disease Type I*/complications , Glycogen Storage Disease Type I*/therapy , Glycogen Storage Disease Type I*/diagnosis, Humans ; Female ; Pregnancy ; Adult ; Cesarean Section

SCR Disease Name: Hepatorenal form of glycogen storage disease

Gene therapy for lysosomal storage diseases.

Authors: Kobayashi H; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, 3-5-28, Nishi-Shimbashi, Minato-ku, Tokyo 105-8461, Japan. Electronic address: hrkb@jikei.ac.jp.

Source: Brain & development [Brain Dev] 2025 Oct; Vol. 47 (5), pp. 104399. Date of Electronic Publication: 2025 Aug 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

MeSH Terms: Lysosomal Storage Diseases*/therapy , Lysosomal Storage Diseases*/genetics , Genetic Therapy*/methods , Genetic Therapy*/adverse effects, Humans ; Animals ; Lysosomes

Heat-Modified Cornstarch by a Homemade Process with Glucose Extended-Release for Possible Dietary Treatment of Glycogen Storage Diseases.

Authors: Calderón de la Barca AM Olivarría-Flores G Cota-Ojeda AL et al.

Source: Journal of medicinal food [J Med Food] 2025 Oct; Vol. 28 (10), pp. 1003-1008. Date of Electronic Publication: 2025 Aug 12.

Publication Type: Journal Article

Journal Info: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9812512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-7600 (Electronic) Linking ISSN: 1096620X NLM ISO Abbreviation: J Med Food Subsets: MEDLINE

MeSH Terms: Starch*/chemistry , Starch*/metabolism , Starch*/administration & dosage , Glucose*/metabolism , Glucose*/chemistry , Glucose*/administration & dosage , Glycogen Storage Disease*/diet therapy , Glycogen Storage Disease*/metabolism , Glycogen Storage Disease*/drug therapy, Humans ; Hot Temperature ; Adult ; Male ; Female ; Blood Glucose/metabolism ; Young Adult ; Cooking ; Delayed-Action Preparations/chemistry ; Middle Aged ; Hydrolysis