Adenylosuccinase deficiency: a newly recognized variant

CDG due to Defective Membrane Transporters: Update.

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Early phosphate changes as potential indicator of unreadiness for artificial feeding: a secondary analysis of the EPaNIC RCT.

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Plasma and red blood cell concentrations of zinc, copper, selenium and magnesium in the first week of paediatric critical illness.

Clinical nutrition (Edinburgh, Scotland)·2024

Early weight measures and long-term neuropsychological outcome of critically ill neonates and infants: a secondary analysis of the PEPaNIC trial.

European journal of pediatrics·2023

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Journal of inherited metabolic disease·2026

Enhanced Bioavailability of Nadolol via Cinnamon Oil-Based Microemulsions: Formulation, Characterization, Cell Culture, and In Situ Intestinal Perfusion Studies.

ACS omega·2026

Surface-engineered Au@Pt nanoparticles-based colorimetric/fluorescent dual-mode three-channel sensor array: Discrimination of light aroma-type Baijiu with variable qualities.

Food chemistry·2026

Nanopore-Based Multiparametric Single-Molecule Protein Detection: From Structural Analysis to Clinical Translation.

Small methods·2026

Thin Nevus-Associated Melanoma: Beyond MIA Score Risk Stratification.

Cancers·2026

In Vivo Visualization and Quantification of Dermal Nevus Microvasculature Using Super-Resolution Ultrasound of Erythrocytes.

Diagnostics (Basel, Switzerland)·2026

hnRNPK condensates facilitate enhancer-promoter looping and RNA polymerase II recruitment.

Nature genetics·2026

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Adenylosuccinase deficiency: a newly recognized variant

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CDG due to Defective Membrane Transporters: Update.

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Adenylosuccinase deficiency: a newly recognized variant

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