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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
- Metabolske Sykdommer V02
- EGL Test Description
- Consensus Recommendations for the Diagnosis, Treatment and Follow-Up of Inherited Methylation Disorders
- Domino Liver Transplantation: the Risk of Disease Recurrence Filomena Conti, Fanny Mochel, Yvon Calmus
- The Cardiovascular Phenotype of Adult Patients with Phenylketonuria Aline Azabdaftari1, Markus Van Der Giet2, Mirjam Schuchardt2, Julia B
- Impaired Homocysteine Metabolism and Atherothrombotic Disease
- Gether with Affection of Other Organs
- Hyperhomocysteinemia Is Associated with Inflammation, Bone Resorption
- Guidelines for Diagnosis and Management... Cblf, Cblg, Cblj and MTHFR Deficiency
- The First Study of Successful Pregnancies in Chinese Patients with Phenylketonuria
- Weakness, Anemia, and Neutropenia in a 9-Year-Old Girl with Influenza Adam Cohen, Funmilola S
- Hyperhomocysteinemia and Venous Thromboembolic Disease
- S-Adenosylhomocysteine Hydrolase Deficiency in a Human: a Genetic Disorder of Methionine Metabolism
- Genetic Factors in Human Neural Tube Defects ISBN: 90-9012589-2 Druk: Printpartners Ipskamp Enschede
- Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology
- OMIM Mendelian Gene List V2.0
- Hyperhomocysteinemia and Primary Antiphospholipid Syndrome
- Cme Reviewarticle
- The First Study of Successful Pregnancies in Chinese Patients with Phenylketonuria
- Errors of Metabolism During the Neonatal Period Sandra Banta-Wright George Fox University, [email protected]
- MTHFR Polymorphisms in Puerto Rican Children with Isolated Congenital Heart Disease and Their Mothers