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Saccharopinuria
(12) Patent Application Publication (10) Pub. No.: US 2006/0134109 A1 Gaitanaris Et Al
23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Attachment a Rare and Expensive Disease List As of December 27, 2010 ICD-9 Age Disease Guidelines Code Group 042
Diseases Catalogue
Familial Hyperlysinemia
SSIEM Classification of Inborn Errors of Metabolism 2011
Citrullinemia and an Alternative Urea Cycle
1 a Clinical Approach to Inherited Metabolic Diseases
Analysis of Amino Acids That Induce Metabolic Errors (PDF Format, 764Kbytes)
Familial Hyperlysinemia with Lysine-Ketoglutarate Reductase Insufficiency
Saccharopinuria 0
Ketoadipic Aciduria: a Description of a New Metabolic Error in Lysine - Tryptophan Degradation
Metabolic Screening List of 140+ Metabolic Abnormalities by GC/MS Analysis
Hair Amino Acids: Normal Values and Results in Metabolic Errors MARC VAN SANDE from the Department of Neurochemistry, Born-Bunge Foundation, Berchem-Anzwerp, Belgium
Nuove Politiche Per L'innovazione Nel Settore Delle Scienze Della Vita
WES Gene Package Metabolic Disorders.Xlsx
List Rare Diseases.Txt
Amino Acid Primary Metabolic Disorder Secondarily Increased (Decreased) In
Top View
WES Gene Package Metabolic Disorders.Xlsx
Metabo Test INFAI®
Appendix A: Medications Used in the Treatment of Inborn Errors
Lysine Metabolism in Mammals by FLORENCE C
Descriptions of Phenotypes
Psykisk Utviklingshemming
(2) Patent Application Publication (10) Pub. No.: US 2016/0282365A1 Gaitanaris Et Al
Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar
Metabolske Sykdommer V02
Dr. Louis Isaac Woolf: at the Forefront of Newborn Screening and the Diet to Treat Phenylketonuria—Biography to Mark His † 100Th Birthday
Source: State: 12.06.2018 ORPHA68367 10507
Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
Saccharopine, a Lysine Degradation Intermediate, Is a Mitochondrial Toxin João Leandro and Sander M
Saccharopinuria Accompanied by Hyperammonemia and Hypercitrullinemia Presented with Elderly-Onset Epilepsy, Progressive Cognitive Decline, and Gait Ataxia
List of Rare Diseases and Synonyms
Differential Diagnosis of (Inherited) Amino Acid Metabolism Or Transport Disorders
Genetic Basis of Hyperlysinemia
Pathway Analysis of Metabolic Activities Gabriele Sales 2018-05-21
NMR-Based Newborn Urine Screening for Optimized Detection of Inherited
Hyperlysinemia
Orphanet Report Series Rare Diseases Collection