Phenylketonuria
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- Selective Newborn Screening of Amino Acid, Fatty Acid and Organic Acid Disorders in the Kingdom of Bahrain
- Amino Acid Metabolism Disorders
- Iminoglycinuria and Hyperglycinuria Are Discrete Human Phenotypes Resulting from Complex Mutations in Proline and Glycine Transporters
- Hyperargininemia with ~R~Inasedeficiency
- It Is Known That Fetal Urine Is Produced at 14Th Week of Gestation and Increases in Amount with Gestational Age (Jeffecoate and Scott 1959)
- The ASIEM Low Protein Handbook for Organic Acid Disorders
- Defect in Pyruvoyl-Tetrahydropterin Synthase
- Diseases Associated with General Amino Acid Transporters of the Solute Carrier 6 Family (SLC6)
- Argininemia/Arginase Deficiency)
- Consensus Guideline for the Diagnosis and Treatment of Tetrahydrobiopterin
- BH4 Deficiency Identified in a Neonatal Screening Program For
- A Late-Diagnosed Phenylketonuria Case Presenting with Autism Spectrum Disorder in Early Childhood
- Inborn Errors of Amino Acid Metabolism
- Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
- Phenylketonuria.Pdf
- Phenylketonuria (PKU) Health Care Professional Fact Sheet a Newborn Screening Test Is a Screen and Not Diagnostic Testing
- Single Amino Acid Supplementation in Aminoacidopathies
- UCD GUIDELINE – 1St REVISION 2018