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Glutaric aciduria type 1
Newborn Screening Laboratory Manual of Services
Glutaric Acidemia Type 1
Orphanet Report Series Rare Diseases Collection
Glutaric Acidemia Type 1: Treatment and Outcome of 168 Patients Over Three Decades
Defects in Amino Acid Catabolism and the Urea Cycle
Evidence Table of Systematic Literature Search* According to SIGN Level
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Birmingham, UK, 4 – 7 September 2012
Soonerstart Automatic Qualifying Syndromes and Conditions
23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: an International Survey
Magnetic Resonance of Myelination and Myelin Disorders Third Edition 000 Valk Titelei 18.04.2005 10:09 Uhr Seite III
Movement Disorders and Neurometabolic Diseases
Expanded Screening Fact Sheets Parents 111214 Disorder
Inborn Errors of Metabolism As a Cause of Neurological Disease in Adults: an Approach to Investigation
Newborn Screening, a Disease‐Changing Intervention for Glutaric
Diagnosis and Management of Glutaryl-Coa Dehydrogenase
Increased Prevalence of Hereditary Metabolic Diseases Among Native Indians in Manitoba and Northwestern Ontario
The Glutaric Acidurias of the Amish: a Sense of Progress 1988-2011
Top View
Expanded Newborn Screening a Review of the Evidence
Investigation of Metabolic Encephalopathy Encephalopathy May Be a Presenting Sign in a Wide Range of Medical Conditions
Dissertation Submitted to the Combined Faculties for the Natural
DHTKD1 and OGDH Display in Vivo Substrate Overlap and Form a Hybrid Ketoacid
Glutaric Aciduria Type 1 in a Kuwaiti Infant H.A
The Cost-Effectiveness of Expanding the UK Newborn Bloodspot
The ASIEM Low Protein Handbook for Organic Acid Disorders
Dr. Kwing Wan Tsui Vice President : Dr
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Decline of Acute Encephalopathic Crises in Children with Glutaryl-Coa Dehydrogenase Deficiency Identified by Newborn Screening in Germany
Publications
Diagnosis and Management of Glutaric Aciduria Type I – Revised Recommendations
Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
Metabolic Serendipities of Expanded Newborn Screening
Single Amino Acid Supplementation in Aminoacidopathies
Phenylketonuria (PKU)
Spectrum Analysis of Inborn Errors of Metabolism for Expanded Newborn
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
Screening Newborns for Metabolic Disorders Based on Targeted Metabolomics Using Tandem Mass Spectrometry
Journal of Child Neurology
Simplified Approach to Glutaric Acidurias: a Mini-Review
Appendix A: Medications Used in the Treatment of Inborn Errors
Elevated Glutaric Acid Levels in Dhtkd1-/Gcdh- Double Knockout Mice MARK Challenge Our Current Understanding of Lysine Metabolism
Proposed Recommendations for Diagnosing and Managing Individuals with Glutaric Aciduria Type I: Second Revision
Homocystinuria, Organic Acidurias, and Urea Cycle Disorders
Neurometabolic Disorders
Paediatric Inherited Metabolic Medicine Syllabus 2021
Food Triggers and Inherited Metabolic Disorders: a Challenge to the Pediatrician Evelina Maines1* , Annunziata Di Palma1 and Alberto Burlina2
University of Groningen Single Amino Acid Supplementation In
Disorders Affecting Protein Metabolism
Metabolic Handbook
Soonerstart Automatic Qualifying Syndromes and Conditions
The ASIEM Low Protein Handbook for Tyrosinaemia
The ASIEM Low Protein Handbook for Urea Cycle Disorders
List of Rare Diseases and Synonyms
Glutaric Acidemia, Type 1
Metabolic Stroke Identifying Underlying Causes of Metabolic Stroke Is Essential for Prompt Appropriate Treatment
Glutaric Acidemia Type I
Inherited Metabolic Diseases in the Southern Chinese Population; Diseases Spectrum and Estimated Incidence from Recurrent Mutations
Can Psychiatric Childhood Disorders Be Due to Inborn Errors of Metabolism?
Glutaric Aciduria Type I a Guide for Parents and Patients
Newborn Screening for Inborn Errors of Metabolism: a Systematic Review