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دانلود کتاب A Quick Guide to Metabolic Disease Testing Interpretation: Testing for Inborn Errors of Metabolism
دانلود کتاب یک راهنمای سریع برای تفسیر تست بیماری متابولیک: آزمایش برای خطاهای ذاتی متابولیسم
مشخصات کتاب
A Quick Guide to Metabolic Disease Testing Interpretation: Testing for Inborn Errors of Metabolism
ویرایش: 2 نویسندگان: Patricia Jones, Khushbu Patel, Dinesh Rakheja سری: ISBN (شابک) : 0128169265, 9780128169261 ناشر: Academic Press سال نشر: 2020 تعداد صفحات: 218 زبان: English فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) حجم فایل: 14 مگابایت
قیمت کتاب (تومان) : 41,000
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توجه داشته باشید کتاب یک راهنمای سریع برای تفسیر تست بیماری متابولیک: آزمایش برای خطاهای ذاتی متابولیسم نسخه زبان اصلی می باشد و کتاب ترجمه شده به فارسی نمی باشد. وبسایت اینترنشنال لایبرری ارائه دهنده کتاب های زبان اصلی می باشد و هیچ گونه کتاب ترجمه شده یا نوشته شده به فارسی را ارائه نمی دهد.
توضیحاتی در مورد کتاب یک راهنمای سریع برای تفسیر تست بیماری متابولیک: آزمایش برای خطاهای ذاتی متابولیسم
تفسیر دقیق کروماتوگرافی‌های اسید آلی به‌دست‌آمده از کروماتوگرافی گازی/طیف‌سنجی جرمی به مقدار قابل توجهی تمرین نیاز دارد. شناخت الگو یک عامل مهم و مهارتی است که با زمان و تلاش به دست می آید. A راهنمای سریع تفسیر آزمایش بیماری متابولیک، ویرایش دوم، این نمونه کروماتوگرافی را ارائه می دهد که متابولیت های مربوط به بیماری خاص را برای خطای ذاتی متابولیسم تشخیص داده شده از طریق این روش نشان می دهد. یک یا چند کروماتوگرافی نماینده از هر یک از اختلالات رایج با ترکیبات مهم ذکر شده در کروماتوگرافی ارائه شده است. این برای متخصصان آزمایشگاهی و پزشکی که آزمایش را برای تشخیص و نظارت IEM تفسیر می کنند، ضروری است.
توضیحاتی درمورد کتاب به خارجی
Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM.
فهرست مطالب
Cover Front matter Copyright Contents Preface Acknowledgment SECTION 1 Introduction Chapter 1 - Introduction 1 - Methodologies 1.1 - Amino acid analysis 1.2 - Acylcarnitine analysis 1.3 - Organic acid analysis Further reading SECTION 2 Organic acidurias Chapter 2 - Disorder: Glutaric acidemia type 1 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 3 - Disorder: Glutaric acidemia type 2 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatographs 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 4 - Disorder: 2-Hydroxyglutaric aciduria 1 - Distinct disorders that fall under 2HGA 2 - Brief synopsis 2.1 Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 5 - Disorder: Isovaleric aciduria 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 6 - Disorder: 2-Methylbutyrylglycinuria 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 7 - Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 8 - Disorder: 3-Methyglutaconic aciduria 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 9 - Disorder: Methylmalonic aciduria 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatographs 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 10 - Disorder: Propionic acidemia 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 11 - Disorder: Succinic semialdehyde dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading SECTION 3 Urea cycle defects Chapter 12 - Disorder: Arginase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 13 - Disorder: Argininosuccinic acidemia 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 14 - Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 15 - Disorder: Citrullinemia and citrin deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromtaograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 16 - Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 17 - Disorder: Ornithine transcarbamylase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading SECTION 4 Disorders of amino acidmetabolism Chapter 18 - Disorder: β-Ketothiolase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 19 - Disorder: Lysinuric protein intolerance 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 20 - Disorder: Maple syrup urine disease 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 21 - Disorder: Glycine encephalopathy 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 22 - Disorder: Phenylketonuria 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example Chromatographs 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 23 - Disorder: Tyrosinemia type 1 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 24 - Disorder: Tyrosinemia types 2 and 3 1 - Synonyms 2 - Brief Synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading SECTION 5 Fatty acid oxidation defects Chapter 25 - Disorder: Carnitine-acylcarnitine translocase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 26 - Disorder: Carnitine palmitoyltransferase 1 deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 27 - Disorder: Carnitine palmitoyltransferase 2 deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 28 - Disorder: Carnitine transporter deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 29 - Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 30 - Disorder: Medium-chain acyl-CoA dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 31 - Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 32 - Disorder: Very long chain acyl CoA dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading SECTION 6 Other metabolic disorders Chapter 33 - Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 34 - Disorder: Canavan Disease 1 - Synonyms 2 - Brief Synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical Presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 35 - Disorder: Dihydropyrimidine dehydrogenase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 36 - Disorder: Glutathione synthetase deficiency 1 - Synonyms 2 - Brief synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Example chromatograph 4.5 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Chapter 37 - Disorder: Pyruvate dehydrogenase deficiency 1 - Synonyms 2 - Brief Synopsis 2.1 - Incidence 2.2 - Etiology 3 - Clinical presentation 4 - Diagnostic compounds 4.1 - Urine organic acid profile 4.2 - Acylcarnitine profile 4.3 - Amino acids 4.4 - Other important diagnostic/monitoring compounds 5 - Newborn screening 6 - Follow-up/confirmatory testing 7 - Interferences and assay or interpretation quirks Further reading Index Back Cover
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