Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

Canadian Medical Association journal·2010

What we know that could influence future treatment of phenylketonuria.

Journal of inherited metabolic disease·2008

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Annals of human genetics·2008

Recommendations for locus-specific databases and their curation.

Human mutation·2007

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Human mutation·2006

After the genome--the phenome?

Journal of inherited metabolic disease·2004

Digital game addiction, mindfulness, and phubbing among adolescents: a cross-sectional design.

European journal of pediatrics·2026

Honey vs. pharmacological treatment for acute cough in children: a systematic review and meta-analysis of randomized controlled trials.

European journal of pediatrics·2026

Cognitive disengagement and emotional-behavioral profiles in children with voiding dysfunction: a controlled clinical study.

European journal of pediatrics·2026

A neonatal prognostic score for infants with congenital cytomegalovirus infection (cCMVnet Score).

European journal of pediatrics·2026

Cranial pathologies in Noonan syndrome: clinical implications for pre-growth hormone neuroimaging.

European journal of pediatrics·2026

Safety and long-term outcomes of surgical intervention in pediatrics with necrotizing pneumonia: a retrospective cohort study.

European journal of pediatrics·2026

Comparability of serum folate concentration measured by a microbiological method, LC-MS/MS and immunoassay.

Annals of clinical biochemistry·2026

"Trojan" Methionine Probe Reveals PKM2 as a Methionine-Sensing Protein in the mTORC1 Pathway.

Journal of the American Chemical Society·2026

Metabolic shifts driven by host-microbial interactions.

The FEBS journal·2026

[Diabetes-driven hematopoietic remodeling and metabolic memory].

Sheng li xue bao : [Acta physiologica Sinica]·2026

Red Cell Distribution Width-Coefficient of Variation and Its Correlation With Components of Metabolic Syndrome: A Case-Control Study.

Cureus·2026

Neuroprotective effects of ROCK inhibition on hippocampal energy metabolism in a rat model of metabolic syndrome.

Iranian journal of basic medical sciences·2026

Related Experiment Videos

Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

Related Concept Videos

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

What we know that could influence future treatment of phenylketonuria.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Recommendations for locus-specific databases and their curation.

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

After the genome--the phenome?

Digital game addiction, mindfulness, and phubbing among adolescents: a cross-sectional design.

Honey vs. pharmacological treatment for acute cough in children: a systematic review and meta-analysis of randomized controlled trials.

Cognitive disengagement and emotional-behavioral profiles in children with voiding dysfunction: a controlled clinical study.

A neonatal prognostic score for infants with congenital cytomegalovirus infection (cCMVnet Score).

Cranial pathologies in Noonan syndrome: clinical implications for pre-growth hormone neuroimaging.

Safety and long-term outcomes of surgical intervention in pediatrics with necrotizing pneumonia: a retrospective cohort study.

Comparability of serum folate concentration measured by a microbiological method, LC-MS/MS and immunoassay.

"Trojan" Methionine Probe Reveals PKM2 as a Methionine-Sensing Protein in the mTORC1 Pathway.

Metabolic shifts driven by host-microbial interactions.

[Diabetes-driven hematopoietic remodeling and metabolic memory].

Red Cell Distribution Width-Coefficient of Variation and Its Correlation With Components of Metabolic Syndrome: A Case-Control Study.

Neuroprotective effects of ROCK inhibition on hippocampal energy metabolism in a rat model of metabolic syndrome.

Related Experiment Videos

Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

Related Concept Videos

Related Articles