Prenatal diagnosis of glutaric acidemias

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Journal of inherited metabolic disease·2007

Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Journal of inherited metabolic disease·2006

Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.

Journal of inherited metabolic disease·2004

Animal models for glutaryl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease·2004

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

Journal of inherited metabolic disease·2004

Glutaric aciduria type I: outcome in the Republic of Ireland.

Journal of inherited metabolic disease·2004

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal diagnosis·2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Prenatal diagnosis·2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Prenatal diagnosis·2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Prenatal diagnosis·2026

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal diagnosis·2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Severe arterial hypertension, a silent complication of Williams-Beuren syndrome: A case report with literature review.

Radiology case reports·2026

Cell-of-origin Discovery in Infant Leukemia through Integration of 3D Models and Patient Transcriptomic Data.

Journal of visualized experiments : JoVE·2026

Safety and Efficacy of Amotosalen-Ultraviolet A Pathogen-Reduced Platelets Transfused to Neonates.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie·2026

An unanticipated case of congenital high airway obstruction syndrome with type C tracheoesophageal fistula and cerebral ventriculomegaly in a preterm infant - is a small stomach a remote clue?

Case reports in perinatal medicine·2026

Role of Color Doppler and Microvascular Flow Imaging in the Assessment of Mesenteric Lymph Nodes in Pediatric Patients.

Cureus·2026

Impact of the neonatal intensive critical ultrasound workflow for managing neonatal acute pulmonary hypertension.

Frontiers in pediatrics·2026

Related Experiment Videos

Prenatal diagnosis of glutaric acidemias

Related Concept Videos

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.

Animal models for glutaryl-CoA dehydrogenase deficiency.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

Glutaric aciduria type I: outcome in the Republic of Ireland.

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Severe arterial hypertension, a silent complication of Williams-Beuren syndrome: A case report with literature review.

Cell-of-origin Discovery in Infant Leukemia through Integration of 3D Models and Patient Transcriptomic Data.

Safety and Efficacy of Amotosalen-Ultraviolet A Pathogen-Reduced Platelets Transfused to Neonates.

An unanticipated case of congenital high airway obstruction syndrome with type C tracheoesophageal fistula and cerebral ventriculomegaly in a preterm infant - is a small stomach a remote clue?

Role of Color Doppler and Microvascular Flow Imaging in the Assessment of Mesenteric Lymph Nodes in Pediatric Patients.

Impact of the neonatal intensive critical ultrasound workflow for managing neonatal acute pulmonary hypertension.

Related Experiment Videos

Prenatal diagnosis of glutaric acidemias

Related Concept Videos

Related Articles