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HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

作者信息

CARSON N A, DENT C E, FIELD C M, GAULL G E

出版信息

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

DOI:10.1016/s0022-3476(65)80121-4

PMID:14264314

Abstract

摘要

相似文献

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

JAMA. 1965 Aug 30;193:711-9. doi: 10.1001/jama.1965.03090090017003.

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.

Science. 1964 Nov 6;146(3645):785-7. doi: 10.1126/science.146.3645.785.

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Arch Neurol. 1965 Nov;13(5):455-70. doi: 10.1001/archneur.1965.00470050003001.

HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS.

J Pediatr. 1965 Jul;67:58-68. doi: 10.1016/s0022-3476(65)80304-3.

Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.

J Med Genet. 1966 Sep;3(3):194-7. doi: 10.1136/jmg.3.3.194.

Homocystinuria due to cystathionine synthase deficiency.

Ann Intern Med. 1965 Dec;63(6):1117-42. doi: 10.7326/0003-4819-63-6-1117.

Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.

J Clin Invest. 1965 Oct;44(10):1708-19. doi: 10.1172/JCI105278.

HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.

Science. 1964 Aug 7;145(3632):588. doi: 10.1126/science.145.3632.588.

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HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

作者信息

CARSON N A, DENT C E, FIELD C M, GAULL G E

出版信息

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

DOI:10.1016/s0022-3476(65)80121-4

PMID:14264314

Abstract

摘要

相似文献

HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

J Pediatr. 1965 Mar;66:565-83. doi: 10.1016/s0022-3476(65)80121-4.

HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

JAMA. 1965 Aug 30;193:711-9. doi: 10.1001/jama.1965.03090090017003.

HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY: THE MODE OF INHERITANCE.

Science. 1964 Nov 6;146(3645):785-7. doi: 10.1126/science.146.3645.785.

HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA.

Pediatrics. 1965 Jan;35:50-6.

Homocystinuria.

Arch Neurol. 1965 Nov;13(5):455-70. doi: 10.1001/archneur.1965.00470050003001.

HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS.

J Pediatr. 1965 Jul;67:58-68. doi: 10.1016/s0022-3476(65)80304-3.

Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.

J Med Genet. 1966 Sep;3(3):194-7. doi: 10.1136/jmg.3.3.194.

Homocystinuria due to cystathionine synthase deficiency.

Ann Intern Med. 1965 Dec;63(6):1117-42. doi: 10.7326/0003-4819-63-6-1117.

Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.

J Clin Invest. 1965 Oct;44(10):1708-19. doi: 10.1172/JCI105278.

HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.

Science. 1964 Aug 7;145(3632):588. doi: 10.1126/science.145.3632.588.

引用本文的文献

Homocysteinylation of Fibrinogen: A Post-Translational Link to Thrombosis.

Int J Mol Sci. 2025 Jun 7;26(12):5471. doi: 10.3390/ijms26125471.

Homocysteine Metabolites, Endothelial Dysfunction, and Cardiovascular Disease.

Int J Mol Sci. 2025 Jan 16;26(2):746. doi: 10.3390/ijms26020746.

Homocysteine Thiolactone Detoxifying Enzymes and Alzheimer's Disease.

Int J Mol Sci. 2024 Jul 25;25(15):8095. doi: 10.3390/ijms25158095.

Suppression of exaggerated NMDAR activity by memantine treatment ameliorates neurological and behavioral deficits in aminopeptidase P1-deficient mice.

Exp Mol Med. 2022 Aug;54(8):1109-1124. doi: 10.1038/s12276-022-00818-9. Epub 2022 Aug 3.

Classification of Dystonia.

Life (Basel). 2022 Jan 29;12(2):206. doi: 10.3390/life12020206.

Early Development of Newborn Screening for HCU and Current Challenges.

Int J Neonatal Screen. 2021 Oct 25;7(4):67. doi: 10.3390/ijns7040067.

Altered hippocampal gene expression, glial cell population, and neuronal excitability in aminopeptidase P1 deficiency.

Sci Rep. 2021 Jan 13;11(1):932. doi: 10.1038/s41598-020-79656-6.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24.

The nutrigenetics of hyperhomocysteinemia: quantitative proteomics reveals differences in the methionine cycle enzymes of gene-induced versus diet-induced hyperhomocysteinemia.

Mol Cell Proteomics. 2010 Mar;9(3):471-85. doi: 10.1074/mcp.M900406-MCP200. Epub 2009 Dec 14.

Classical homocystinuria: vascular risk and its prevention.

J Inherit Metab Dis. 2003;26(2-3):259-65. doi: 10.1023/a:1024497419821.