Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Journal of inherited metabolic disease·2026

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Molecular genetics and metabolism reports·2025

Malignant brain tumors in patients with glutaric aciduria type I.

Molecular genetics and metabolism·2018

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

EJIFCC·2017

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

JIMD reports·2015

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

Gene·2015

Cardiorespiratory coupling during high-frequency oscillatory ventilation with volume guarantee in extremely preterm infants.

European journal of pediatrics·2026

A survey on the institutional practices of the use of isavuconazole in onco-hematological children, on behalf of the Infectious Working Group of AIEOP.

European journal of pediatrics·2026

Effectiveness of colchicine preparation switching in pediatric colchicine-resistant familial Mediterranean fever: a real-world study.

European journal of pediatrics·2026

Pediatric medication-related incidents in Japan: a nationwide observational study of severity and factors associated with severe patient harm.

European journal of pediatrics·2026

Clinical characteristics and outcomes of respiratory syncytial virus and human metapneumovirus ınfections in children under five years of age.

European journal of pediatrics·2026

Artificial intelligence in pediatric diabetes: clinical benefits, developmental risks, and ethical challenges.

European journal of pediatrics·2026

An improved Nicholson-Ross-Weir method for thin material characterization using adsorption spreading under negative pressure.

The Review of scientific instruments·2026

Quantitative Ultrasound Analysis of Muscle Reinnervation Following Anterior Interosseous Nerve-To-Ulnar Motor Branch Supercharged End-To-Side Transfer Surgery: A Preliminary Study.

Muscle & nerve·2026

Scaffold Fixation of Multi-Fragmented Intra-Articular Distal Radius Fractures.

Journal of wrist surgery·2026

Experimental justification for the use of the artificial deformity creation method for the treatment of patients with extensive soft tissue defects.

OTA international : the open access journal of orthopaedic trauma·2026

Oriented hydrogel biomimicking muscle fibers to treat pelvic organ prolapse via integrated immunomodulation and electrical stimulation.

Materials today. Bio·2026

Cortical bone material / compositional changes in children with mild osteogenesis imperfecta.

Bone reports·2026

Related Experiment Videos

Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case

Related Concept Videos

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Malignant brain tumors in patients with glutaric aciduria type I.

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

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Pediatric medication-related incidents in Japan: a nationwide observational study of severity and factors associated with severe patient harm.

Clinical characteristics and outcomes of respiratory syncytial virus and human metapneumovirus ınfections in children under five years of age.

Artificial intelligence in pediatric diabetes: clinical benefits, developmental risks, and ethical challenges.

An improved Nicholson-Ross-Weir method for thin material characterization using adsorption spreading under negative pressure.

Quantitative Ultrasound Analysis of Muscle Reinnervation Following Anterior Interosseous Nerve-To-Ulnar Motor Branch Supercharged End-To-Side Transfer Surgery: A Preliminary Study.

Scaffold Fixation of Multi-Fragmented Intra-Articular Distal Radius Fractures.

Experimental justification for the use of the artificial deformity creation method for the treatment of patients with extensive soft tissue defects.

Oriented hydrogel biomimicking muscle fibers to treat pelvic organ prolapse via integrated immunomodulation and electrical stimulation.

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Related Experiment Videos

Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case

Related Concept Videos

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