Related Experiment Videos
Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria
J H Walter1, F White, J E Wraith
1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
Journal of Inherited Metabolic Disease
|July 1, 1997
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet journal of rare diseases·2017
Hepatic Hilar Lymph Node Reactivity at Kasai Portoenterostomy for Biliary Atresia: Correlations With Age, Outcome, and Histology of Proximal Biliary Remnant.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·2017
High order harmonic generation from SF6: Deconvolution of macroscopic effects.
The Journal of chemical physics·2016
Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.
Journal of inherited metabolic disease·2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.
Journal of inherited metabolic disease·2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.
Journal of inherited metabolic disease·2026
Genome Editing for Glycogen Storage Diseases.
Journal of inherited metabolic disease·2026
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Journal of inherited metabolic disease·2026
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Journal of inherited metabolic disease·2026
Surgical team configuration, technical errors, and workload in robotic distal gastrectomy.
Surgical endoscopy·2026
[Challenges and Technical Solutions in Dual-port Robotic-assisted Right Upper Sleeve Lobectomy:a Case-based Experience].
Kyobu geka. The Japanese journal of thoracic surgery·2026
[Establishing Bronchial and Vascular Reconstruction in Robot-assisted Pulmonary Thoracic Surgery].
Kyobu geka. The Japanese journal of thoracic surgery·2026