The incidence of inherited metabolic disorders in the West Midlands, UK.
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The diagnosis of inherited metabolic diseases by microarray gene expression profilingInborn errors of metabolism: Review and data from a tertiary care center.A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Caenorhabditis elegans metabolic gene regulatory networks govern the cellular economy.Neuroimaging of mitochondrial disease.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.A review of gene therapy in canine and feline models of lysosomal storage disorders.UK Pakistani views on the adverse health risks associated with consanguineous marriages.Frequency of metabolic disorders: more than one needle in the haystack.Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria.Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss.Review of specialist dietitian services in patients with inherited metabolic disease in the United Kingdom.Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Sharpening the cutting edge: additional considerations for the UK debates on embryonic interventions for mitochondrial diseases.Disease models for the development of therapies for lysosomal storage diseases.Neurodevelopmental manifestations of mitochondrial disease.Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course.Organic acidurias: an updated review.Inborn errors of metabolism and expanded newborn screening: review and update.Treatment of lysosomal storage disorders: successes and challenges.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE.Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.Caregiver Quality of Life with Tyrosinemia Type 1.Deficiency of aminopeptidase P1 causes behavioral hyperactivity, cognitive deficits, and hippocampal neurodegeneration.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.The role of the clinician in the multi-omics era: are you ready?Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York stateParkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features
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P2860
The incidence of inherited metabolic disorders in the West Midlands, UK.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
The incidence of inherited metabolic disorders in the West Midlands, UK.
@ast
The incidence of inherited metabolic disorders in the West Midlands, UK.
@en
type
label
The incidence of inherited metabolic disorders in the West Midlands, UK.
@ast
The incidence of inherited metabolic disorders in the West Midlands, UK.
@en
prefLabel
The incidence of inherited metabolic disorders in the West Midlands, UK.
@ast
The incidence of inherited metabolic disorders in the West Midlands, UK.
@en
P2093
P2860
P356
P1476
The incidence of inherited metabolic disorders in the West Midlands, UK.
@en
P2093
P2860
P304
P356
10.1136/ADC.2005.091637
P407
P577
2006-05-11T00:00:00Z