自发性气胸合并吡哆醇反应性同型胱氨酸尿症。 - Suppr

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

作者信息

Bass H N, LaGrave D, Mardach R, Cederbaum S D, Fuster C D, Chetty M

机构信息

Department of Medical Genetics, Kaiser Permanente Medical Care Program of Southern California, Panorama City 91402-5497, USA.

出版信息

J Inherit Metab Dis. 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649.

DOI:10.1023/a:1005384121649

PMID:9427154

Abstract

摘要

相似文献

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

J Inherit Metab Dis. 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649.

The successful treatment of homocystinuria with pyridoxine.

J Pediatr. 1969 Sep;75(3):463-78. doi: 10.1016/s0022-3476(69)80274-x.

Pyridoxine-unresponsive homocystinuria.

N Engl J Med. 1970 Nov 26;283(22):1206-8. doi: 10.1056/NEJM197011262832207.

Studies of the mechanism of pyridoxine-responsive homocystinuria.

Pediatr Res. 1972 Mar;6(3):187-96. doi: 10.1203/00006450-197203000-00007.

Newborn screening for homocystinuria.

Early Hum Dev. 1997 Apr 25;48(1-2):203-7. doi: 10.1016/s0378-3782(96)01860-9.

[Homocystinuria: clinical picture, therapy and results in 8 patients].

Dtsch Med Wochenschr. 1973 Jul 6;98(27):1313-9. doi: 10.1055/s-0028-1107021.

A case of homocystinuria with a dystonic neurological syndrome.

Neuropadiatrie. 1970 Feb;1(3):337-43. doi: 10.1055/s-0028-1091823.

The effect of pyridoxine on platelet adhesiveness in homocystinuria.

Neuropadiatrie. 1974 Nov;5(4):402-9. doi: 10.1055/s-0028-1091720.

Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.

Metabolism. 1983 Apr;32(4):390-7. doi: 10.1016/0026-0495(83)90049-5.

[Abortive form of homocystinuria].

Wien Klin Wochenschr. 1970 Oct 18;82(42):741-4.

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Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

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Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

J Inherit Metab Dis. 1997 Nov;20(6):831-2. doi: 10.1023/a:1005384121649.

The successful treatment of homocystinuria with pyridoxine.

J Pediatr. 1969 Sep;75(3):463-78. doi: 10.1016/s0022-3476(69)80274-x.

Pyridoxine-unresponsive homocystinuria.

N Engl J Med. 1970 Nov 26;283(22):1206-8. doi: 10.1056/NEJM197011262832207.

Studies of the mechanism of pyridoxine-responsive homocystinuria.

Pediatr Res. 1972 Mar;6(3):187-96. doi: 10.1203/00006450-197203000-00007.

Newborn screening for homocystinuria.

Early Hum Dev. 1997 Apr 25;48(1-2):203-7. doi: 10.1016/s0378-3782(96)01860-9.

[Homocystinuria: clinical picture, therapy and results in 8 patients].

Dtsch Med Wochenschr. 1973 Jul 6;98(27):1313-9. doi: 10.1055/s-0028-1107021.

A case of homocystinuria with a dystonic neurological syndrome.

Neuropadiatrie. 1970 Feb;1(3):337-43. doi: 10.1055/s-0028-1091823.

The effect of pyridoxine on platelet adhesiveness in homocystinuria.

Neuropadiatrie. 1974 Nov;5(4):402-9. doi: 10.1055/s-0028-1091720.

Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients.

Metabolism. 1983 Apr;32(4):390-7. doi: 10.1016/0026-0495(83)90049-5.

[Abortive form of homocystinuria].

Wien Klin Wochenschr. 1970 Oct 18;82(42):741-4.

引用本文的文献

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.

Children (Basel). 2023 Feb 17;10(2):396. doi: 10.3390/children10020396.

Aetiology of Primary Spontaneous Pneumothorax.

J Clin Med. 2022 Jan 19;11(3):490. doi: 10.3390/jcm11030490.

The Genetics of Pneumothorax.

Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI.

A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.

Respir Res. 2016 May 27;17(1):64. doi: 10.1186/s12931-016-0377-9.

Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.

Am J Physiol Heart Circ Physiol. 2011 Jan;300(1):H13-26. doi: 10.1152/ajpheart.00598.2010. Epub 2010 Oct 22.

Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria.

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