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核心技术专利：CN118964589B侵权必究

核心技术专利：CN118964589B侵权必究

Stephens A D, Perrett D

Clin Sci Mol Med. 1976 Jul;51(1):27-32. doi: 10.1042/cs0510027.

A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygotes for cystinuria. 4. The renal transport defect in this family may represent one end of the spectrum of cystinuria or it may be a form akin to isolated hypercystinuria.

报道了一个患有特殊类型胱氨酸尿症的家族。2. 先证者表现为胱氨酸肾结石；其肾小管对胱氨酸的重吸收严重异常，但对鸟氨酸、赖氨酸和精氨酸的肾小管重吸收仅略低于正常水平。3. 先证者的一个孩子排泄的胱氨酸和赖氨酸量增加，这是典型的II型胱氨酸尿症杂合子表现。4. 这个家族的肾脏转运缺陷可能代表了胱氨酸尿症谱系的一端，或者可能是一种类似于孤立性高胱氨酸尿症的形式。

Stephens A D, Perrett D

Clin Sci Mol Med. 1976 Jul;51(1):27-32. doi: 10.1042/cs0510027.

A family is reported with an unusual type of cystinuria. 2. The propositus presented with a cystine renal stone; the renal tubular reabsorption of cystine was grossly abnormal but the tubular reabsorption of ornithine, lysine and arginine was only slightly less than normal. 3. One of the children of the propositus escreted cystine and lysine in increased amounts typical of type II heterozygotes for cystinuria. 4. The renal transport defect in this family may represent one end of the spectrum of cystinuria or it may be a form akin to isolated hypercystinuria.

报道了一个患有特殊类型胱氨酸尿症的家族。2. 先证者表现为胱氨酸肾结石；其肾小管对胱氨酸的重吸收严重异常，但对鸟氨酸、赖氨酸和精氨酸的肾小管重吸收仅略低于正常水平。3. 先证者的一个孩子排泄的胱氨酸和赖氨酸量增加，这是典型的II型胱氨酸尿症杂合子表现。4. 这个家族的肾脏转运缺陷可能代表了胱氨酸尿症谱系的一端，或者可能是一种类似于孤立性高胱氨酸尿症的形式。