"Biotinidase Deficiency" - Books

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See btd.L (BIOTINIDASE) biotinidase L homeolog in the Gene database

Results: 17 books (123 items)

Select item 14589841.

GeneReviews® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 44036682.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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Select item 29911043.

Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B6, Folate, Vitamin B12, Pantothenic Acid, Biotin, and Choline.

Institute of Medicine (US) Standing Committee on the Scientific Evaluation of Dietary Reference Intakes and its Panel on Folate, Other B Vitamins, and Choline.

Washington (DC): National Academies Press (US); 1998.

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Select item 32896944.

Assessing Genetic Risks: Implications for Health and Social Policy.

Institute of Medicine (US) Committee on Assessing Genetic Risks; Andrews LB, Fullarton JE, Holtzman NA, et al., editors.

Washington (DC): National Academies Press (US); 1994.

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Select item 18813825.

Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th edition.

Siegel GJ, Agranoff BW, Albers RW, et al., editors.

Philadelphia: Lippincott-Raven; 1999.

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Select item 25195186.

Rare Diseases and Orphan Products: Accelerating Research and Development.

Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors.

Washington (DC): National Academies Press (US); 2010.

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Select item 30177527.

Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals.

Genetic Alliance; District of Columbia Department of Health.

Washington (DC): Genetic Alliance; 2010 Feb 17.

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Select item 54164788.

Use of Lorazepam for the Treatment of Pediatric Status Epilepticus: A Randomized, Double-Blinded Trial of Lorazepam and Diazepam [Internet].

Giacoia G, Chamberlain J, Capparelli EV, et al.; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Bethesda (MD): National Institute of Child Health and Human Development (US); 2015 Sep 15.

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Select item 25616109.

ACMG ACT Sheets and Algorithms [Internet].

Bethesda (MD): American College of Medical Genetics and Genomics; 2001-.

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Select item 541219010.

Diagnostic Errors in the Emergency Department: A Systematic Review [Internet].

Newman-Toker DE, Peterson SM, Badihian S, et al.

Rockville (MD): Agency for Healthcare Research and Quality (US); 2022 Dec. (Comparative Effectiveness Review, No. 258.)

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Select item 327488611.

Recommended Dietary Allowances: 10th Edition.

National Research Council (US) Subcommittee on the Tenth Edition of the Recommended Dietary Allowances.

Washington (DC): National Academies Press (US); 1989.

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Select item 265918212.

Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews [Internet].

York (UK): Centre for Reviews and Dissemination (UK); 1995-.

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Select item 242222613.

Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research: Workshop Summary.

Institute of Medicine (US) Roundtable on Translating Genomic-Based Research for Health.

Washington (DC): National Academies Press (US); 2010.

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Select item 557058414.

Nutrient Requirements of Dairy Cattle: Eighth Revised Edition.

National Academies of Sciences, Engineering, and Medicine; Division on Earth and Life Studies; Board on Agriculture and Natural Resources; Committee on Nutrient Requirements of Dairy Cattle.

Washington (DC): National Academies Press (US); 2021 Aug 30.

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Select item 452691815.

Newborn Blood Spot Screening for Galactosemia, Tyrosinemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency: Costs and Cost Analysis [Internet].

Institute of Health Economics.

Edmonton, Alberta, Canada: Institute of Health Economics (IHE); 2016 Mar.

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Select item 340129416.

Endotext [Internet].

Feingold KR, Anawalt B, Blackman MR, et al., editors.

South Dartmouth (MA): MDText.com, Inc.; 2000-.

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Select item 313106617.

Safety of Genetically Engineered Foods: Approaches to Assessing Unintended Health Effects.

National Research Council (US) Committee on Identifying and Assessing Unintended Effects of Genetically Engineered Foods on Human Health.

Washington (DC): National Academies Press (US); 2004.

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Figure 1.

The biotin cycle
Free biotin enters the cycle from dietary sources or from the cleavage of biocytin or biotinyl-peptides by the action of biotinidase. The free biotin is then covalently attached to the various apocarboxylases, propionyl-CoA carboxylase (PCC), beta-methylcrotonyl-CoA carboxylase (MCC), pyruvate carboxylase (PC), and acetyl-CoA carboxylase (ACC) by the action of biotin holocarboxylase synthetase, thereby forming active holocarboxylases. The holocarboxylases are subsequently proteolyzed to biocytin and/or biotinyl-peptides which are then further cleaved by biotinidase, thus recycling the biotin. The liberated biotin can then enter the free biotin pool. Isolated deficiencies of each of the carboxylases and deficiencies of both holocarboxylase synthetase and biotinidase can occur.

Biotinidase Deficiency.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.