TYPE-1 HYPERPROLINEMIA IN A FAMILY SUFFERING FROM ANIRIDIA AND SEVERE DYSTROPHIA OF OCULAR TISSUES

被引：5

作者：

FUSCO, G

CARLOMAGNO, S

ROMANO, A

RINALDI, E

CEDROLA, G

CIANCIARUSO, L

CURTO, A

ROSOLIA, S

AURICCHIO, G

机构：

[1] UNIV NAPLES,SCH MED,INST OPHTHALMOL,I-80134 NAPLES,ITALY

[2] UNIV NAPLES,SCH MED,INST NERVOUS & SENSORY ORGAN DIS,I-80134 NAPLES,ITALY

来源：

OPHTHALMOLOGICA | 1976年 / 173卷 / 01期

关键词：

D O I：

10.1159/000307812

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：1 / 10

页数：10

共 7 条

[1] FAMILIAL HYPERPROLINEMIA - REPORT OF A 2ND CASE ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION WITH DEMONSTRATION OF AN ENZYME DEFECT [J].

EFRON, ML .

NEW ENGLAND JOURNAL OF MEDICINE, 1965, 272 (24) :1243-+

[2]

FONTAINE G, 1970, HELV PAEDIATR ACTA, V25, P165

[3]

MENKES JH, 1963, ARCH NEUROL, V4, P464

[4]

MOLLICA F, 1971, PEDIATRICS, V48, P225

[5]

SCRIVER CR, 1972, METABOLIC BASIS INHE, P351

[6] AUTOMATIC RECORDING APPARATUS FOR USE IN THE CHROMATOGRAPHY OF AMINO ACIDS [J].

SPACKMAN, DH ;

STEIN, WH ;

MOORE, S .

ANALYTICAL CHEMISTRY, 1958, 30 (07) :1190-1206

[7] OBSERVATIONS ON THE AMINO ACID COMPOSITION OF HUMAN HEMOGLOBINS [J].

STEIN, WH ;

KUNKEL, HG ;

COLE, RD ;

SPACKMAN, DH ;

MOORE, S .

BIOCHIMICA ET BIOPHYSICA ACTA, 1957, 24 (03) :640-642

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