Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5). Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, we found in all patients a promoter mutation (c.-167G>T) in the phosphomannomutase 2 gene (PMM2), either homozygous or in trans with PMM2 coding mutations. PMM2 encodes a key enzyme in N-glycosylation. Abnormal glycosylation has been asso...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts t...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetica...
This is the author accepted manuscript. The final version is available from the publisher via the DO...
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetica...
Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been rece...
Background: Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are ra...
Polycystic kidney disease (PKD) is a genetically heterogeneous disorder. In addition to the many PKD...
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The m...
The polycystic kidney disease 2 (PKDP) gene, encoding a 968-amino acid integral membrane protein wit...
SummaryRecently the second gene for autosomal dominant poly-cystic kidney disease (ADPKD), located o...
Background: Maturity onset diabetes of young (MODY) type 5 is a form of non-insulin-dependent diabet...
Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive...
Location of mutations within the PKD2 gene influences clinical outcome.BackgroundSince the cloning o...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts t...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetica...
This is the author accepted manuscript. The final version is available from the publisher via the DO...
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetica...
Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been rece...
Background: Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are ra...
Polycystic kidney disease (PKD) is a genetically heterogeneous disorder. In addition to the many PKD...
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The m...
The polycystic kidney disease 2 (PKDP) gene, encoding a 968-amino acid integral membrane protein wit...
SummaryRecently the second gene for autosomal dominant poly-cystic kidney disease (ADPKD), located o...
Background: Maturity onset diabetes of young (MODY) type 5 is a form of non-insulin-dependent diabet...
Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive...
Location of mutations within the PKD2 gene influences clinical outcome.BackgroundSince the cloning o...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts t...
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (H...