Hyperhomocysteinemia
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- Newborn Screening Fact Sheets
- THROMBOPHILIA and HEMOSTASIS Genetic Tests for Hereditary Bleeding and Thromboembolic Disorders
- Whole Exome Sequencing Gene Package Metabolic Disorders, Version 5.1, 31-1-2020
- The Spectrum of Mutations of Homocystinuria in the MENA Region
- Inborn Errors of Amino Acid Metabolism (Renal Block)
- Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196
- Mackenzie's Mission Gene & Condition List
- Inborn Errors of Amino Acid Metabolism
- 1. Sheathing of the Vessels Is Present In: (A) Primary Optic Atrophy
- A Novel PAX3 Mutation in a Korean Patient with Waardenburg
- Laboratory Analysis of Amino Acids, 2018 Revision: a Technical Standard of the American College of Medical Genetics and Genomics (ACMG)
- Metabolic Serendipities of Expanded Newborn Screening
- WES Gene Package Primary Immunodeficiency
- Mendeliome Panel Versie V3 (4362 Genen) Centrum Voor Medische Genetica Gent
- US 2016/0076021 A1 Stojanovic Et Al
- The Handbook of Ocular Disease Management
- Homocystinuria, Organic Acidurias, and Urea Cycle Disorders
- Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (Cblc) in the Neonate