Related Experiment Videos
Pyroglutamic aciduria and nephropathic cystinosis
1Department of Clinical Biochemistry, Bambino Gesù Children's Research Hospital, Rome, Italy.
Journal of Inherited Metabolic Disease
|June 29, 1999
Summary
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Measurement of the Top-Quark Production Cross Section and Charge Asymmetry at LHCb.
Physical review letters·2026
Searches for B^{0}→K^{+}π^{-}τ^{+}τ^{-} and B_{s}^{0}→K^{+}K^{-}τ^{+}τ^{-} Decays.
Physical review letters·2026
First Evidence of the B_{s}^{0}→K^{-}π^{+}γ Decay.
Physical review letters·2026
The Role of Urea Cycle Functional Studies in Preclinical Research.
Journal of inherited metabolic disease·2026
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.
Journal of inherited metabolic disease·2026
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.
Journal of inherited metabolic disease·2026
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.
Journal of inherited metabolic disease·2026
Immune Dysregulation in Branched Chain Organic Acidemias.
Journal of inherited metabolic disease·2026
Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.
Journal of inherited metabolic disease·2026
Bone health in neuroendocrine tumors and prognostic implications beyond skeletal metastases.
Frontiers in endocrinology·2026