Early prenatal diagnosis of hereditary tyrosinaemia

Newborn screening for medium chain acyl CoA dehydrogenase deficiency.

Archives of disease in childhood·2008

Causes of and diagnostic approach to methylmalonic acidurias.

Journal of inherited metabolic disease·2008

Neurological implications of urea cycle disorders.

Journal of inherited metabolic disease·2007

Recent advances in amino acid and organic acid metabolism.

Journal of inherited metabolic disease·2007

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

Journal of inherited metabolic disease·2007

The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

Journal of inherited metabolic disease·2006

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

A Rare Case Report of Nosocomial Urosepsis due to Klebsiella pneumoniae in a Preterm Neonate Complicated by Acute Cystitis.

Case reports in infectious diseases·2026

A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family.

Case reports in obstetrics and gynecology·2026

Clinical Heterogeneity of Refractory Ascites After Pediatric Liver Transplantation Modulates Allograft Rejection Risk.

MedComm·2026

A Tiny Heart, a Massive Challenge: Case Presentation of Pericardial Effusion and Cardiac Tamponade in an Extremely Preterm Neonate and Corresponding Literature Review.

Cureus·2026

The central function and specific molecular mechanisms of the TLR4 pathway underlying impaired intestinal barrier in necrotizing enterocolitis.

Biochemistry and biophysics reports·2026

Neonatal antiphospholipid syndrome-associated thrombosis: Diagnostic pitfalls and therapeutic frontiers.

Blood reviews·2026

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Early prenatal diagnosis of hereditary tyrosinaemia

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Newborn screening for medium chain acyl CoA dehydrogenase deficiency.

Causes of and diagnostic approach to methylmalonic acidurias.

Neurological implications of urea cycle disorders.

Recent advances in amino acid and organic acid metabolism.

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

The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

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