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Academic Journal

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.

  • Authors : Castellar-Leones SM; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia. .; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia. .

Subjects: Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/drug therapy ; Enzyme Replacement Therapy* ; alpha-Glucosidases*/alpha-Glucosidases*/alpha-Glucosidases*/therapeutic use

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Jul 18; Vol. 18 (1), pp. 328. Date of Electronic Publication: 2024 Jul 18.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

Detection of novel PPP1R1B::STARD3 fusion transcript in acute myeloid leukemia: a case report.

  • Authors : Firouzabadi ED; Stem Cell and Regenerative Medicine Research Group, Academic Center for Education, Culture, and Research (ACECR), Mashhad, Razavi Khorasan, Iran.; Department of Biology, Faculty of Science, Hakim Sabzevar University, Sabzevar, Iran.

Subjects: Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/diagnosis; Humans

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Jun 05; Vol. 18 (1), pp. 269. Date of Electronic Publication: 2024 Jun 05.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

Dendritic cell vaccination in combination with erlotinib in a patient with inoperable lung adenocarcinoma: a case report.

  • Authors : Kosumi T; Kyushukouseikai Clinic, 1-2-12 Tenjin, Chuo-Ku, Fukuoka-Shi, 810-0001, Japan. .; Kobayashi M

Subjects: Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/drug therapy ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/drug therapy ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/genetics

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Feb 10; Vol. 18 (1), pp. 88. Date of Electronic Publication: 2024 Feb 10.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

Myoid gonadal stromal tumor of the testis-the novel subtype of testicular gonadal stromal tumors: a case report and review of the literature.

  • Authors : Dieckmann KP; Testicular Cancer Unit, Department of Urology, Asklepios Klinik Altona, Paul Ehrlich Strasse 1, 22763, Hamburg, Germany. .; Tharun L

Subjects: Sex Cord-Gonadal Stromal Tumors*/Sex Cord-Gonadal Stromal Tumors*/Sex Cord-Gonadal Stromal Tumors*/surgery ; Sex Cord-Gonadal Stromal Tumors*/Sex Cord-Gonadal Stromal Tumors*/Sex Cord-Gonadal Stromal Tumors*/pathology ; Testicular Neoplasms*/Testicular Neoplasms*/Testicular Neoplasms*/surgery

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Feb 22; Vol. 18 (1), pp. 71. Date of Electronic Publication: 2024 Feb 22.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

Complement-mediated dialysis reaction during regular hemodialysis treatment: a case report.

  • Authors : Pethő Á; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Korányi S. U. 2/a, 1083, Budapest, Hungary. .; Schnabel K

Subjects: Hypersensitivity*/Hypersensitivity*/Hypersensitivity*/etiology ; Renal Dialysis*/Renal Dialysis*/Renal Dialysis*/adverse effects; Humans

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Feb 08; Vol. 18 (1), pp. 46. Date of Electronic Publication: 2024 Feb 08.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

A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature.

  • Authors : Elkhatib SK; Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA.; Neilsen BK

Subjects: Carcinoma/Carcinoma/Carcinoma/*diagnosis ; Head and Neck Neoplasms/Head and Neck Neoplasms/Head and Neck Neoplasms/*diagnosis ; Nuclear Proteins/Nuclear Proteins/Nuclear Proteins/*genetics

  • Source: Journal of medical case reports [J Med Case Rep] 2019 Mar 11; Vol. 13 (1), pp. 57. Date of Electronic Publication: 2019 Mar 11.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

Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature.

  • Authors : Sukumar JS; Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA.; Sukumar S

Subjects: Antineoplastic Agents/Antineoplastic Agents/Antineoplastic Agents/*therapeutic use ; Carcinoma, Mucoepidermoid/Carcinoma, Mucoepidermoid/Carcinoma, Mucoepidermoid/*pathology ; Kidney Neoplasms/Kidney Neoplasms/Kidney Neoplasms/*secondary

  • Source: Journal of medical case reports [J Med Case Rep] 2019 Dec 28; Vol. 13 (1), pp. 385. Date of Electronic Publication: 2019 Dec 28.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

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.

  • Authors : Wei H; The First Affiliated Hospital of Guangxi Medical University, 6 Shuangyong Road, Qingxiu District, Nanning, Guangxi Zhuang Autonomous Region, 530021, People's Republic of China.; Meng X

Subjects: Ectopia Lentis*/Ectopia Lentis*/Ectopia Lentis*/diagnosis ; Ectopia Lentis*/Ectopia Lentis*/Ectopia Lentis*/genetics ; Ectopia Lentis*/Ectopia Lentis*/Ectopia Lentis*/surgery Familial ectopia lentis

  • Source: Journal of medical case reports [J Med Case Rep] 2023 Dec 26; Vol. 17 (1), pp. 532. Date of Electronic Publication: 2023 Dec 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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