8 results on '"Häberle J"'
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2. Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
3. Pseudodeficiency of glutamine in infant liver disease
4. Proven germline mosaicism in a father of two children with CHARGE syndrome
5. Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency
6. Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation
7. Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis
8. Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay
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