Pages that link to "Q24301799"

The following pages link to Mutations responsible for 3-phosphoserine phosphatase deficiency (Q24301799):

Displaying 22 items.

• PSPH deficiency (Q18553428) (← links)
• A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expression (Q24607731) (← links)
• Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway (Q24682720) (← links)
• Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway (Q28246648) (← links)
• Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke (Q30414223) (← links)
• Mechanisms of toxicity of triphenyltin chloride (TPTC) determined by a live cell reporter array (Q31106347) (← links)
• Treatment with amino acids in serine deficiency disorders (Q34536482) (← links)
• L-serine synthesis in the central nervous system: a review on serine deficiency disorders (Q35016184) (← links)
• Incidental Medical Information in Whole-Exome Sequencing (Q35996752) (← links)
• Fatal cerebral edema associated with serine deficiency in CSF. (Q37132279) (← links)
• Human HAD phosphatases: structure, mechanism, and roles in health and disease (Q38011246) (← links)
• On the phenotypic spectrum of serine biosynthesis defects (Q38767340) (← links)
• Serine biosynthesis and transport defects (Q38830566) (← links)
• Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics (Q39880829) (← links)
• De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features (Q41551222) (← links)
• Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures (Q41927068) (← links)
• An update on serine deficiency disorders (Q41932509) (← links)
• Genome-wide analyses identify common variants associated with macular telangiectasia type 2. (Q46703366) (← links)
• Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan (Q48627361) (← links)
• Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations (Q90084031) (← links)
• Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders (Q96649062) (← links)
• Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease (Q97652867) (← links)