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Academic Journal

Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment.

  • Authors : Azadeh M; Ultragenyx Pharmaceutical, Inc., Novato, California, USA.; Good J

Subjects: Biomarkers*/Biomarkers*/Biomarkers*/metabolism ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/drug therapy ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis

  • Source: The AAPS journal [AAPS J] 2024 Aug 23; Vol. 26 (5), pp. 97. Date of Electronic Publication: 2024 Aug 23.Publisher: American Association of Pharmaceutical Scientists Country of Publication: United States NLM ID: 101223209 Publication Model: Electronic Cited

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Academic Journal

Inborn errors of metabolism: Historical perspectives to contemporary management.

  • Authors : Mansoor S; Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad, Pakistan; Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan

Subjects: Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/therapy ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/genetics

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 562, pp. 119883. Date of Electronic Publication: 2024 Jul 30.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Computer-assisted patient identification tool in inborn errors of metabolism - potential for rare disease patient registry and big data analysis.

  • Authors : Mak CM; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China. Electronic address: .; Woo PPS

Subjects: Registries* ; Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Big Data*

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119811. Date of Electronic Publication: 2024 Jun 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Epilepsy and inborn errors of metabolism].

Subjects: Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/complications ; Epilepsy*/Epilepsy*/Epilepsy*/etiology ; Epilepsy*/Epilepsy*/Epilepsy*/drug therapy

  • Source: Revista de neurologia [Rev Neurol] 2024 Sep 29; Vol. 79 (5), pp. 129-135.Publisher: Revista De Neurologia Country of Publication: Spain NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578

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Academic Journal

Long-term Outcomes of Liver Transplantation for Inborn Errors of Metabolism in Children.

  • Authors : Miller W; Department of Surgery, University of Minnesota Medical School, Minneapolis, Minnesota.; Wothe J

Subjects: Liver Transplantation* ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/surgery ; Quality of Life*

  • Source: Transplantation proceedings [Transplant Proc] 2024 Jul-Aug; Vol. 56 (6), pp. 1359-1364. Date of Electronic Publication: 2024 Jul 20.Publisher: Elsevier Science Inc Country of Publication: United States NLM ID: 0243532 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models.

  • Authors : Didiasova M; Medical Faculty, Institute of Biochemistry, University of Giessen, Giessen, Germany.; Banning A

Subjects: Precision Medicine*/Precision Medicine*/Precision Medicine*/methods ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/therapy ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/drug therapy

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 509-516. Date of Electronic Publication: 2023 Aug 30.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.

  • Authors : Allen SK; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK.; Chandler NJ

Subjects: Ultrasonography, Prenatal* ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/genetics

  • Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 432-442. Date of Electronic Publication: 2023 Dec 08.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Academic Journal

Access to Dietary Treatment for Inborn Errors of Metabolism: You Do Not Get What You Do Not Pay For.

  • Authors : Berry SA; Department of Pediatrics, University of Minnesota, Minneapolis.

Subjects: Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diet therapy ; Health Services Accessibility*/Health Services Accessibility*/Health Services Accessibility*/statistics & numerical data ; Health Services Accessibility*/Health Services Accessibility*/Health Services Accessibility*/economics

  • Source: JAMA network open [JAMA Netw Open] 2024 Jun 03; Vol. 7 (6), pp. e2412784. Date of Electronic Publication: 2024 Jun 03.Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.

  • Authors : Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. .; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain. .

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis; Humans Medium chain acyl CoA dehydrogenase deficiency

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 17; Vol. 19 (1), pp. 202. Date of Electronic Publication: 2024 May 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

  • Authors : Verma A; West Virginia School of Osteopathic Medicine, Lewisburg, West Virginia, USA.; Lehman AN

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/diagnosis ; Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/Metabolism, Inborn Errors*/diagnosis; Child

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2283. Date of Electronic Publication: 2023 Sep 08.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  78,418 results for ""INBORN errors of metabolism""