羟脯氨酸血症：一种看似无害的家族性代谢紊乱。 - Suppr

Hydroxyprolinemia: an apparently harmless familial metabolic disorder.

作者信息

Pelkonen R, Kivirikko K I

出版信息

N Engl J Med. 1970 Aug 27;283(9):451-6. doi: 10.1056/NEJM197008272830903.

DOI:10.1056/NEJM197008272830903

PMID:4393577

Abstract

摘要

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Hydroxyprolinemia: an apparently harmless familial metabolic disorder.

N Engl J Med. 1970 Aug 27;283(9):451-6. doi: 10.1056/NEJM197008272830903.

[Hyperprolinemia and hydroxyprolinemia].

Presse Med (1893). 1969 May 28;77(26):957-8.

Pure familial hyperprolinemia: isolated inborn error of aminoacid metabolism without other anomalies in a Sicilian family.

Pediatrics. 1971 Aug;48(2):225-31.

[Renal clearance of amino acid in a hyperprolinemic child].

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Familial iminoglycinuria. An inborn error of renal tubular transport.

N Engl J Med. 1968 Jun 27;278(26):1407-13. doi: 10.1056/NEJM196806272782601.

[Familial hyperprolinemia].

Neuropsihijatrija. 1968;16(1):15-23.

Defective hydroxyproline metabolism in type II hyperprolinemia.

Biochem Med. 1974 Aug;10(4):329-36. doi: 10.1016/0006-2944(74)90036-2.

Cystathioninuria and renal iminoglycinuria in a pedigree.

N Engl J Med. 1968 Apr 25;278(17):924-7. doi: 10.1056/NEJM196804252781702.

Hyperprolinemia: clinical and biochemical family study.

Pediatrics. 1969 Oct;44(4):554-63.

Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids.

J Pediatr. 1970 Mar;76(3):386-92. doi: 10.1016/s0022-3476(70)80477-2.

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Hydroxyprolinemia: an apparently harmless familial metabolic disorder.

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