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QuickView for biosynthesis defects
Most Correlated Studies
- Hippocampus and cerebellum of ERCC1-knockout mice
- Neural progenitor cells (NPCs) derived from iPSCs of pontocerebellar hypoplasia (PCH) patients
- Gene expression profiling in skeletal muscle of PCOS patients after pioglitazone therapy
- Brains and livers from PTS mutant knock-in mice
- Liver-specific Cyp51 knockout male and female mice
Most Relevant Literature
- Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.
- A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defec…
- PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine…
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic R…
- Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-…
Most Relevant Clinical Trials
- Effect of Oral Cimetidine in the Protoporphyrias
- Graft Acute Kidney Injury: Vitamin B3 to Facilitate Renal Recovery In the Early Life of a Transplant
- Colombia National Porphyria Registry
- A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalan…
- Tolerability and Efficacy of L-Serine in Patients With GRIN-related Encephalopathy
