Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness

N Engl J Med. 1962 Jul 12:267:51-60. doi: 10.1056/NEJM196207122670201.
No abstract available

MeSH terms

  • 1-Pyrroline-5-Carboxylate Dehydrogenase / deficiency
  • Amino Acid Metabolism, Inborn Errors*
  • Brain Diseases*
  • Brain*
  • Deafness*
  • Humans
  • Kidney Diseases / genetics*
  • Proline Oxidase*

Substances

  • 1-Pyrroline-5-Carboxylate Dehydrogenase
  • Proline Oxidase

Supplementary concepts

  • Hyperprolinemia type 2