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  • 1-10 ل  217,167 نتائج ل ""Metabolic Diseases""
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Academic Journal

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

  • Authors : Fecarotta S; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/genetics ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/diagnosis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jan 24; Vol. 20 (1), pp. 38. Date of Electronic Publication: 2025 Jan 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Cardiac Manifestation and Inherited Metabolic Diseases

  • Authors : Christel Tran, Principal Investigator

  • Source: Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case SeriesGariani K, Nascimento M, Superti-Furga A, Tran C. Clouds over IMD?

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Orphan Drugs for Inherited Metabolic Diseases

  • Authors : Christel Tran, Principal investigator

  • Source: The Challenge of Treating Orphan Diseases With Novel Therapies: Experience From One Adult Metabolic Clinic in SwitzerlandGariani K,

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Academic Journal

Effects of Phytochemicals on Metabolic Diseases and Human Health.

  • Authors : Martín MÁ; Department of Metabolism and Nutrition, Institute of Food Science and Technology and Nutrition (ICTAN), Consejo Superior de Investigaciones Científicas (CSIC), José Antonio Novais 10, Ciudad Universitaria, 28040 Madrid, Spain.; CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.

Subjects: Phytochemicals*/Phytochemicals*/Phytochemicals*/pharmacology ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/drug therapy; Humans

  • Source: Nutrients [Nutrients] 2024 Dec 14; Vol. 16 (24). Date of Electronic Publication: 2024 Dec 14.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular Interaction Between Vasopressin and Insulin in Regulation of Metabolism: Impact on Cardiovascular and Metabolic Diseases.

Subjects: Insulin*/Insulin*/Insulin*/metabolism ; Cardiovascular Diseases*/Cardiovascular Diseases*/Cardiovascular Diseases*/metabolism ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 11; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Magnetic Resonance Imaging in Metabolic Diseases

  • Authors : Martin Heni, Prof. Dr. med.

  • Source: Magnetic Resonance Imaging in Metabolic Diseases

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Academic Journal

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

Subjects: Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/diagnosis ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/genetics ; Undiagnosed Diseases*/Undiagnosed Diseases*/Undiagnosed Diseases*/diagnosis

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 14; Vol. 19 (1), pp. 427. Date of Electronic Publication: 2024 Nov 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-10 ل  217,167 نتائج ل ""Metabolic Diseases""