المساهمون: Blau, N. (Nenad), 1946-, Duran, Marinus., Gibson, Kenneth Michael, 1955-

مصطلحات موضوعية: Molecular Biology -- methods., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn errors of -- Diagnosis -- Laboratory manuals., Biochemical genetics -- Laboratory manuals., Laboratory Manuals., CD-ROMs., Laboratory manuals.

المساهمون: Fernandes, J. (John), 1921-

مصطلحات موضوعية: Metabolism, Inborn errors of., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn Errors -- therapy., Maladies héréditaires métaboliques., Stofwisselingsziekten.

المؤلفون: Clarke, Joe T. R.

مصطلحات موضوعية: Clinical Laboratory Techniques., Diagnosis, Differential., Metabolism, Inborn Errors -- therapy., Metabolism, Inborn Errors -- genetics., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn errors of.

المساهمون: Blau, N. (Nenad), 1946-

مصطلحات موضوعية: Clinical Laboratory Techniques., Diagnosis, Differential., Metabolism, Inborn Errors -- diagnosis., Metabolism -- Disorders -- Diagnosis -- Handbooks, manuals, etc., Metabolism, Inborn errors of -- Diagnosis -- Handbooks, manuals, etc., Diagnosis, Laboratory -- Handbooks, manuals, etc., CD-ROMs., Handbooks and manuals.

المؤلفون: Clarke, Joe T. R.

مصطلحات موضوعية: Metabolism, Inborn Errors -- therapy., Clinical Laboratory Techniques., Diagnosis, Differential., Metabolism, Inborn Errors -- genetics., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn errors of.

المساهمون: Matsumoto, Isamu, 1929-, Symposium on Clinical Diagnosis of Metabolic Disorders (1st & 2nd : 1989-1990 : Kanazawa, Japan)

مصطلحات موضوعية: Metabolism, Inborn Errors -- drug therapy., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn Errors., Metabolism, Inborn Errors, Metabolism, Inborn Errors -- diagnosis, Metabolism, Inborn Errors -- drug therapy, Metabolism, Inborn errors of -- Diagnosis., Metabolism, Inborn errors of -- Treatment., Metabolism, Inborn Errors -- Case Reports., Congresses., Case Reports.

المساهمون: Fernandes, J. (John), 1921-, Saudubray, J. M. (Jean-Marie), 1937-, Van den Berghe, Georges, 1938-

مصطلحات موضوعية: Metabolism, Inborn errors of., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn Errors -- therapy.

المؤلفون: Marit Schwantje, Merel S. Ebberink, Mirjam Doolaard, Jos P. N. Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg‐Oldfors, Luc Régal, Laura Donker Kaat, Hidde H. Huidekoper, Simon Olpin, Duncan Cole, Stuart J. Moat, Gepke Visser, Sacha Ferdinandusse

المساهمون: Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics

المصدر: Journal of inherited metabolic disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands

مصطلحات موضوعية: Delayed Diagnosis, mitochondrial trifunctional protein complex, Adolescent, Muscular Diseases/diagnosis, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Muscular Diseases, Genetics, Humans, Coenzyme A, Child, Genetics (clinical), long-chain ketoacyl-CoA thiolase deficiency, Mitochondrial Trifunctional Protein, Fatty Acids, long-chain fatty acid oxidation disorders, thermo-sensitivity, 3-Hydroxyacyl CoA Dehydrogenases, Mitochondrial Myopathies, Mitochondrial Trifunctional Protein/deficiency, mitochondrial trifunctional protein deficiency, Lipid Metabolism, Inborn Errors/diagnosis, Fatty Acids/metabolism, Child, Preschool, Nervous System Diseases, Mitochondrial Myopathies/diagnosis, Cardiomyopathies, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902c
https://pubmed.ncbi.nlm.nih.gov/35403730

المساهمون: Blaskovics, Milan E., Blau, Nenad., Duran, Marinus., Blau, N. (Nenad), 1946-

مصطلحات موضوعية: Diagnosis, Differential., Clinical Laboratory Techniques., Metabolism, Inborn Errors -- diagnosis., Metabolic Diseases -- diagnosis., Metabolism, Inborn errors of -- Diagnosis., Handbooks.

المؤلفون: Clarke, Joe T. R.

مصطلحات موضوعية: Metabolism, Inborn Errors -- therapy., Clinical Laboratory Techniques., Diagnosis, Differential., Metabolism, Inborn Errors -- genetics., Metabolism, Inborn Errors -- diagnosis., Metabolism, Inborn errors of.