Newborn screening for galactosemia and other galactose metabolic defects

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

[Functional separation of the lungs. Ventilation strategy for unilateral blunt force thoracic trauma].

Der Anaesthesist·2012

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Clinical genetics·2009

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

The Journal of pediatrics·2026

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Journal of pediatrics·2026

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

The Journal of pediatrics·2026

Trends in Emergency Department Visits for Children, 2016-2023.

The Journal of pediatrics·2026

Multisystem Inflammatory Syndrome Therapies in Children: A Comparative Effectiveness Trial.

The Journal of pediatrics·2026

Postnatal Growth Patterns in Children Born at Term and Preterm in a Large Primary Care Network.

The Journal of pediatrics·2026

Evaluation of a rapid, direct sample loading electrochemical AST assay with clinical urine samples.

Frontiers in microbiology·2026

Evaluation of an Automated Cartridge-Based PCR Assay for the Detection of Leishmania spp. DNA in Canine Lymph Node Samples.

Pathogens (Basel, Switzerland)·2026

Beyond Analytical Agreement: Integrating Analytical Performance and Algorithm-Assisted Morphological Interpretation in a Comparative Evaluation of the Mindray BC-7800/BC-7900 and Sysmex XN-9100 Hematology Platforms.

Diagnostics (Basel, Switzerland)·2026

Protocol to improve isoform-level quantification of low-abundance transcripts via STALARD pre-amplification.

STAR protocols·2026

Enzyme-linked chaperone assay: a novel bacterial detection method for viability discrimination.

Journal of microbiological methods·2026

Double shrinkage transfer causal learning: An application to alzheimer's disease.

PLoS computational biology·2026

Related Experiment Videos

Newborn screening for galactosemia and other galactose metabolic defects

Related Concept Videos

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

[Functional separation of the lungs. Ventilation strategy for unilateral blunt force thoracic trauma].

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

Trends in Emergency Department Visits for Children, 2016-2023.

Multisystem Inflammatory Syndrome Therapies in Children: A Comparative Effectiveness Trial.

Postnatal Growth Patterns in Children Born at Term and Preterm in a Large Primary Care Network.

Evaluation of a rapid, direct sample loading electrochemical AST assay with clinical urine samples.

Evaluation of an Automated Cartridge-Based PCR Assay for the Detection of Leishmania spp. DNA in Canine Lymph Node Samples.

Beyond Analytical Agreement: Integrating Analytical Performance and Algorithm-Assisted Morphological Interpretation in a Comparative Evaluation of the Mindray BC-7800/BC-7900 and Sysmex XN-9100 Hematology Platforms.

Protocol to improve isoform-level quantification of low-abundance transcripts via STALARD pre-amplification.

Enzyme-linked chaperone assay: a novel bacterial detection method for viability discrimination.

Double shrinkage transfer causal learning: An application to alzheimer's disease.

Related Experiment Videos

Newborn screening for galactosemia and other galactose metabolic defects

Related Concept Videos

Related Articles