Neonatal screening for cystic fibrosis: it is time

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal of medical genetics·2013

The mild form of menkes disease: a 34 year progress report on the original case.

JIMD reports·2013

The management of pregnancy in maple syrup urine disease: experience with two patients.

JIMD reports·2013

Mapping spatial and field dependence of magnetic domain memory by soft X-ray speckle metrology.

Journal of synchrotron radiation·2012

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

Annals of clinical biochemistry·2011

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Neurology·2010

Overview of the Effectiveness of Different Surfactant Administration Methods: An Umbrella Review of Meta-Analyses.

Pediatric pulmonology·2026

Physiotherapy in Primary Ciliary Dyskinesia-What Is the Evidence?: A Narrative Review and Personal Experience.

Pediatric pulmonology·2026

Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.

Pediatric pulmonology·2026

Cathepsin B, Airway Pathogens, and Inflammation in the Lower Airways of Children With Cystic Fibrosis.

Pediatric pulmonology·2026

Predictors of Frequent Acute Respiratory Infections in Children With Tracheostomies.

Pediatric pulmonology·2026

Sleep-Disordered Breathing in Primary Ciliary Dyskinesia.

Pediatric pulmonology·2026

Trifecta Outcomes in Pediatric Pyeloplasty: A Comparative Analysis of Standard Versus Mini-Laparoscopic Techniques.

Journal of laparoendoscopic & advanced surgical techniques. Part A·2026

Octyl-butyl cyanoacrylate glue versus splint for stabilising short peripheral intravenous catheters in neonates: a retrospective cohort study.

BMJ paediatrics open·2026

Congenital Tuberculosis in a 2-Week-Old Neonate With an Asymptomatic Mother.

Pediatrics·2026

Chinese Guidelines for the Diagnosis and Treatment of Craniopharyngioma in Children (2025).

Cancer letters·2026

Prognostic Significance of Plasma Lactate Levels in Postcardiotomy Patients.

JACC. Advances·2026

End-diastolic velocity as a simplified bedside predictor of estimated cerebral perfusion pressure in neonates: A multicentre prospective observational study.

Brain & development·2026

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

The mild form of menkes disease: a 34 year progress report on the original case.

The management of pregnancy in maple syrup urine disease: experience with two patients.

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An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

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Sleep-Disordered Breathing in Primary Ciliary Dyskinesia.

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