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- Rapid Quantification of Underivatized Amino Acids in Plasma by Hydrophilic Interaction Liquid Chromatography (HILIC) Coupled with Tandem Mass-Spectrometry
- Included in Newborn Screening Panels
- Renal Tubular Transport of Proline, Hydroxyproline, and Glycine in Health and in Familial Hyperprolinemia
- Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196
- Included in Newborn Screening Panels
- Informative Markers for Supplemental Newborn Screening at Mayo Clinic
- Catabolism of Carbon Skeletons of Amino Acids and Related Disorders-III
- Hyperprolinemia Type I Caused by Homozygous P.T466M Mutation in PRODH ✉ Rina Hama1, Jun Kido 1,2 , Keishin Sugawara2, Toshiro Nakamura3 and Kimitoshi Nakamura1,2
- Renal Tubular Transport of Proline, Hydroxyproline, and Glycine: III
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders
- Novel Variants in a Patient with Late-Onset Hyperprolinemia Type II
- Hyperprolinemia Type IA: Benign ª the Author(S) 2017 DOI: 10.1177/2326409817707772 Metabolic Anomaly Or a Trigger Journals.Sagepub.Com/Home/Iem for Brain Dysfunction?
- Loss-Of-Function Mutations in the Glutamate Transporter SLC1A1 Cause Human Dicarboxylic Aminoaciduria
- Metabolic Studies of a Family with Massive Formiminoglutamic Aciduria
- Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
- Organic Acidemias/Acidurias Precision Panel Overview
- Newborndxtm Advanced Sequencing Evaluation Disorders List
- Catabolism of Carbon Skeletons of Aa and Related Disorders-I
- Descriptions of Phenotypes
- Faculty of Medicine and Surgery Doctorate in “Human Reproduction
- Disorders of Amino Acid Metabolism 1971
- A Life in Newborn Screening
- Inborn Errors of Proline Metabolism1–3
- 1. Congenital Urea Cycle Disorders 2. Citrullinemia 3
- 1. Inborn Errors of Metabolism (IEM) – a Review of Cases Of
- Table S4. Disease Prevalence
- Aminoaciduria and Glycosuria in Children
- Individual Genome Sequence Gene List (By Disease)
- Interpretation and Follow-Up of Abnormal Newborn Screening Results from MS/MS
- Six Month Competency for 5600 Techs (New Trainees)
- Metabolism and Uptake of L-Proline by Human Kidney Cortex
- WES Gene Package Autism.Xlsx
- Genetic Heterogeneity of Histidinemia Detected by Screening Newborn Infants in Japan
- Hyperornithinemia, Hyperammonernia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity
- Whole Exome Sequencing Gene Package Autism, Version 3.1, 31-1-2020
- Recessive Gene List V2.0