Pili torti and sensory neural hearing loss

A SEX-LINKED RECESSIVE DISORDER WITH RETARDATION OF GROWTH, PECULIAR HAIR, AND FOCAL CEREBRAL AND CEREBELLAR DEGENERATION

John H. Menkes, Milton Alter, Gerd Klaus Steigleder et al. · PEDIATRICS · 1962 · 859 citations

Life Sciences, Genetics, Neurology +17

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism

B. Levin, H. M. M. Mackay, V. G. Oberholzer · Archives of Disease in Childhood · 1961 · 61 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

TWISTED HAIRS (PILI TORTI)

F Ronchese · Archives of Dermatology · 1932 · 46 citations

Medicine, Dermatology, Dermatopathology +10

ARGININOSUCCINIC ACIDURIA IN MONILETHRIX

J.C.M. Grosfeld, J.A. Mighorst, T. Moolhuysen · The Lancet · 1964 · 36 citations

Medicine, Biochemistry, Pathobiology +5

Pili Torti Hereditaria

Bernard Appel, Salvatore Messina · New England Journal of Medicine · 1942 · 20 citations