Prenatal detection of congenital cataract in a fetus with Lowe syndrome

THE AMERICAN JOURNAL OF DISEASES OF CHILDREN

Clifford G. Grulee · Archives of Pediatrics and Adolescent Medicine · 1951 · 651 citations

Medicine, Child Health, Pediatrics +9

ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

Charles U. Lowe · Archives of Pediatrics and Adolescent Medicine · 1952 · 394 citations

Medicine, Nephrology, Pediatrics +12

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

Anthony G.W. Norden, Marta Lapsley, Philip Lee et al. · Kidney International · 2001 · 246 citations · Full text

Medicine, Nephrology, Pathology +13

Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

Ti Lin, Bonnie M. Orrison, Ann-Marie Leahey et al. · The American Journal of Human Genetics · 1997 · 111 citations · Full text

Life Sciences, Genetics, Ophthalmology +12

Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

Wulf Röschinger, Ania C. Muntau, Günther Rudolph et al. · Molecular Genetics and Metabolism · 2000 · 43 citations

Life Sciences, Genetics, Ophthalmology +14