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Hawkinsinuria
Second-Tier DNA Confirmation of Newborn Screening Results
Inherited Metabolic Disease
Amino Acid Disorders
Centometabolic® COMBINING GENETIC and BIOCHEMICAL TESTING for the FAST and COMPREHENSIVE DIAGNOSTIC of METABOLIC DISORDERS
Diseases Catalogue
SSIEM Classification of Inborn Errors of Metabolism 2011
ERNDIM Diagnostic Proficiency Testing Is an Important Tool In
Liver Disorders in Inherited Metabolic Disorders
Inborn Errors of Metabolism in Infancy
Amino Acids Profiling for the Diagnosis of Metabolic Disorders
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
Treatment of Microbial Infections with NTBC (OTT ID 1133)
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Long-Term Outcomes and Practical Considerations in The
Laboratory Analysis of Amino Acids, 2018 Revision: a Technical Standard of the American College of Medical Genetics and Genomics (ACMG)
HPD Gene 4-Hydroxyphenylpyruvate Dioxygenase
Tyrosinemias: Biochemistry and Clinical Laboratory Investigation
Top View
Organic Acidemias/Acidurias Precision Panel Overview
18 Disorders of Tyrosine Metabolism
Journal of Child Neurology
Newborndxtm Advanced Sequencing Evaluation Disorders List
Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
Appendix A: Medications Used in the Treatment of Inborn Errors
High-Risk Screening and Diagnosis of Inborn Errors of Metabolism
Tyrosinemias: Biochemistry and Clinical Laboratory Investigation PRESENTER: Kwabena A
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican
Psykisk Utviklingshemming
Metabolic Disorders
Metabolske Sykdommer V02
Common Variants in Mendelian Kidney Disorder Genes and Their Association with Renal Function And
Hawkinsinuria in Two Unrelated Greek Newborns: Identification of a Novel Variant, Biochemical Findings and Treatment
Source: State: 12.06.2018 ORPHA68367 10507
Table S4. Disease Prevalence
ERNDIM Qualitative Organic Acids Urine Heidelberg ANNUAL REPORT 2018
Newborn Screening of Metabolic Disorders
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Adjuvant Treatment for Phenylketonuria (PKU) Comparative Effectiveness Review Number 56
Long-Term Outcomes and Practical Considerations in The
Chronic Tyrosinemia Associated with 4-Hydroxyphenylpyruvate Dioxygenase Deficiency with Acute Intermittent Ataxia and Without Visceral and Bone Involvement
Recessive Gene List V2.0