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Academic Journal

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.

  • Authors : Sato T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.; Ichihashi Y

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/diagnosis ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics; Humans

  • Source: Congenital anomalies [Congenit Anom (Kyoto)] 2024 Mar; Vol. 64 (2), pp. 63-65. Date of Electronic Publication: 2024 Feb 15.Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited

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Academic Journal

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

  • Authors : Lefèvre CR; Department of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Bron, France.; Department of Biochemistry and Toxicology, University Hospital, Rennes, France.

Subjects: Glycogen Storage Disease Type IV*/Glycogen Storage Disease Type IV*/Glycogen Storage Disease Type IV*/genetics ; Glycogen Storage Disease Type IV*/Glycogen Storage Disease Type IV*/Glycogen Storage Disease Type IV*/pathology ; Arthrogryposis*/Arthrogryposis*/Arthrogryposis*/complications

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 255-269. Date of Electronic Publication: 2023 Nov 27.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Review

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

  • Authors : Picillo E; Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy.; Onore ME

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/complications ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/diagnosis ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics Glycogen Storage Disease Type Ix; Glycogen Storage Disease, Type IXD

  • Source: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2024 Feb 21; Vol. 43 (1), pp. 21-26. Date of Electronic Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: eCollection Cited Medium: Internet ISSN:

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Report

[Ophthalmologic involvement in glycogen storage disease type 1: Case report].

  • Authors : Zaafrane N; Service d'ophtalmologie, CHU de Farhat-Hached de Sousse, avenue Ibn-El-Jazzar, 4000 Sousse, Tunisie; Faculté de médecine Ibn-Al-Jazzar Sousse, université de Sousse, Sousse, Tunisie. Electronic address: .

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/complications ; Eye Diseases*/Eye Diseases*/Eye Diseases*/etiology; Humans

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2024 Feb; Vol. 47 (2), pp. 103990. Date of Electronic Publication: 2023 Oct 30.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597

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Report

Glycogen Storage Disease Type IXb in a 3-y-old Child.

  • Authors : Jain S; Department of Pediatrics, Seth Gordhandas Sunderdas Medical College & King Edward Memorial Hospital, Parel, Mumbai, Maharashtra, 400012, India.; Tullu MS

Subjects: Glycogen Storage Disease* ; Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/complications ; Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/diagnosisGlycogen Storage Disease IXB

  • Source: Indian journal of pediatrics [Indian J Pediatr] 2024 Jan; Vol. 91 (1), pp. 100. Date of Electronic Publication: 2023 Jun 23.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic

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Academic Journal

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.

  • Authors : Zamanfar D; Department of Pediatric Endocrinology, Diabetes Reaserch Center of Mazandaran, Mazandaran University of Medical Sciences, Sari, Iran. .; Hashemi-Soteh SM

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/diagnosis ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/pathology Glycogen Storage Disease Type Ix

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Jan 12; Vol. 18 (1), pp. 14. Date of Electronic Publication: 2024 Jan 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Academic Journal

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

  • Authors : de Marchi R; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, SP, Brazil.; Nalin T

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/diagnosis ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics ; Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/diagnosis

  • Source: Genes [Genes (Basel)] 2023 Dec 15; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

  • Authors : Wang Z; Department of Gastroenterology, Hebei Children's Hospital, 133 Jianhua South Street, Shijiazhuang 050031, Hebei Province, China.; Zhao R

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics ; Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/diagnosis ; Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/Glycogen Storage Disease Type I*/genetics

  • Source: The Journal of international medical research [J Int Med Res] 2023 Dec; Vol. 51 (12), pp. 3000605231216633.Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300

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Academic Journal

Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis.

  • Authors : Valberg SJ; Large Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA.; Williams ZJ

Subjects: Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/complications ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/genetics ; Glycogen Storage Disease*/Glycogen Storage Disease*/Glycogen Storage Disease*/veterinary

  • Source: Equine veterinary journal [Equine Vet J] 2023 Jul; Vol. 55 (4), pp. 618-631. Date of Electronic Publication: 2022 Sep 14.Publisher: Wiley Country of Publication: United States NLM ID: 0173320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2042-3306

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Academic Journal

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

  • Authors : Mitra S; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390-9063, USA. .; Chen B

Subjects: Glycogen Storage Disease Type IV* ; Glycogen Storage Disease* ; Nervous System Diseases*Polyglucosan Body Disease, Adult Form

  • Source: Acta neuropathologica [Acta Neuropathol] 2024 Feb 27; Vol. 147 (1), pp. 46. Date of Electronic Publication: 2024 Feb 27.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533

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  • 1-10 of  41,453 results for ""GLYCOGEN storage disease""