Antenatal diagnosis of maple-syrup-urine disease

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

JIMD reports·2015

Human branched-chain L-amino acid aminotransferase: Activity and subcellular localization in cultured skin fibroblasts.

Amino acids·2013

Structural white matter changes in adolescents and young adults with maple syrup urine disease.

Journal of inherited metabolic disease·2013

Compartmental approach for evaluation of plasma kinetics and (13)co(2)-exhalation after oral loading with L-[1-(13)c]leucine.

Isotopes in environmental and health studies·2011

Improved detection of chromosome 16 rearrangements in acute myeloid leukemias using 16p and 16q specific microdissection DNA libraries.

Oncology reports·2011

Telomerase activity and telomere length in different areas of renal cell carcinoma.

International journal of oncology·2011

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Lancet (London, England)·2026

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Lancet (London, England)·2026

Morphological Variability of the P1 Segment of the Posterior Cerebral Artery: An Anatomical and Angiographic Study with Clinical Correlations.

Chirurgia (Bucharest, Romania : 1990)·2026

Epithelioid hemangioma from inferior turbinate in a pediatric patient: a case report.

Journal of surgical case reports·2026

Norepinephrine Versus Dopamine as Initial Vasoactive Therapy in Neonatal Septic Shock: A Randomized Controlled Trial in a Tertiary Care Neonatal Intensive Care Unit in Eastern India.

Cureus·2026

Nailfold Capillary Morphology as a Potential Biomarker of Cardiovascular or Metabolic Risk in Children Aged 3-17 Years Prenatally Exposed to Alcohol.

Alcohol, clinical & experimental research·2026

Same-day discharge after pediatric neurosurgical procedures: a single-institution experience.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Reference values for serum proenkephalin in a pediatric and young adult cohort.

Clinical biochemistry·2026

Related Experiment Videos

Antenatal diagnosis of maple-syrup-urine disease

Related Concept Videos

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

Human branched-chain L-amino acid aminotransferase: Activity and subcellular localization in cultured skin fibroblasts.

Structural white matter changes in adolescents and young adults with maple syrup urine disease.

Compartmental approach for evaluation of plasma kinetics and (13)co(2)-exhalation after oral loading with L-[1-(13)c]leucine.

Improved detection of chromosome 16 rearrangements in acute myeloid leukemias using 16p and 16q specific microdissection DNA libraries.

Telomerase activity and telomere length in different areas of renal cell carcinoma.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Liposuction versus conservative therapy for patients with lipoedema in Germany: a multicentre, randomised controlled clinical trial.

Targeted left ventricular lead placement in biventricular pacing for heart failure: a national, multicentre, double-blind, randomised controlled trial in Denmark.

Morphological Variability of the P1 Segment of the Posterior Cerebral Artery: An Anatomical and Angiographic Study with Clinical Correlations.

Epithelioid hemangioma from inferior turbinate in a pediatric patient: a case report.

Norepinephrine Versus Dopamine as Initial Vasoactive Therapy in Neonatal Septic Shock: A Randomized Controlled Trial in a Tertiary Care Neonatal Intensive Care Unit in Eastern India.

Nailfold Capillary Morphology as a Potential Biomarker of Cardiovascular or Metabolic Risk in Children Aged 3-17 Years Prenatally Exposed to Alcohol.

Same-day discharge after pediatric neurosurgical procedures: a single-institution experience.

Reference values for serum proenkephalin in a pediatric and young adult cohort.

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Antenatal diagnosis of maple-syrup-urine disease

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