成人胱氨酸病 - Suppr

Suppr

超能文献

Cystinosis in an adult.

作者信息

COGAN D G, KUWABARA T, KINOSHITA J, SHEEHAN L, MEROLA L

出版信息

J Am Med Assoc. 1957 May 25;164(4):394-6. doi: 10.1001/jama.1957.02980040034009.

DOI:10.1001/jama.1957.02980040034009

PMID:13415995

Abstract

摘要

相似文献

Cystinosis in an adult.

J Am Med Assoc. 1957 May 25;164(4):394-6. doi: 10.1001/jama.1957.02980040034009.

Amino-aciduria in childhood: cystinuria or cystinosis?; a case report.

J S C Med Assoc (Columbia). 1957 Jun;53(6):202-7.

Infantile cystinosis with cystine crystals in cornea and conjunctiva.

Acta Ophthalmol (Copenh). 1952;30(4):365-77. doi: 10.1111/j.1755-3768.1952.tb00012.x.

[A case of acute cystinosis].

Acta Paediatr Belg. 1955;9(1):5-18.

[A new case of cystinosis (Lignac's disease)].

Acta Paediatr Belg. 1955;9(5):191-211.

[Cystinosis in infancy; clinical observations].

Medizinische. 1956 Nov 24;1(47):1672-5.

Ocular manifestations of systemic cystinosis.

AMA Arch Ophthalmol. 1956 Jan;55(1):36-41. doi: 10.1001/archopht.1956.00930030038008.

[Cystinosis with de Toni-Debré-Fanconi syndrome; clinical and biological study].

Arch Fr Pediatr. 1954;11(8):806-30.

[Cystinuria, cystinosis, and De Toni-Debré-Fanconi disease].

Pediatrie. 1956;11(2):181-203.

[Cystinuria, cystinosis and De Toni-Debré-Fanconi disease].

Minerva Pediatr. 1956 Apr 14;8(15):558-69.

引用本文的文献

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2.

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis.

Kidney Int Rep. 2018 Jul 29;3(6):1489-1496. doi: 10.1016/j.ekir.2018.07.019. eCollection 2018 Nov.

Potential use of stem cells as a therapy for cystinosis.

Pediatr Nephrol. 2019 Jun;34(6):965-973. doi: 10.1007/s00467-018-3974-7. Epub 2018 May 22.

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Nat Rev Nephrol. 2017 Feb;13(2):115-131. doi: 10.1038/nrneph.2016.182. Epub 2016 Dec 19.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Clin Ophthalmol. 2014 Oct 10;8:2077-84. doi: 10.2147/OPTH.S36626. eCollection 2014.

Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. doi: 10.1016/j.survophthal.2006.10.006.

[Unclear, bilateral retinal dystrophy. 35-year old female patient with glare sensation].

Ophthalmologe. 2003 Nov;100(11):988-90. doi: 10.1007/s00347-002-0780-0.

Adult cystinosis: electron microscopy of the conjunctiva.

Graefes Arch Clin Exp Ophthalmol. 1982;219(3):143-5. doi: 10.1007/BF02152300.

The prognosis and management of renal tubular disorders.

Proc R Soc Med. 1967 Nov 1;60(11 Part 1):1149-52. doi: 10.1177/003591576706011P139.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Cystinosis in an adult.

J Am Med Assoc. 1957 May 25;164(4):394-6. doi: 10.1001/jama.1957.02980040034009.

Amino-aciduria in childhood: cystinuria or cystinosis?; a case report.

J S C Med Assoc (Columbia). 1957 Jun;53(6):202-7.

Infantile cystinosis with cystine crystals in cornea and conjunctiva.

Acta Ophthalmol (Copenh). 1952;30(4):365-77. doi: 10.1111/j.1755-3768.1952.tb00012.x.

[A case of acute cystinosis].

Acta Paediatr Belg. 1955;9(1):5-18.

[A new case of cystinosis (Lignac's disease)].

Acta Paediatr Belg. 1955;9(5):191-211.

[Cystinosis in infancy; clinical observations].

Medizinische. 1956 Nov 24;1(47):1672-5.

Ocular manifestations of systemic cystinosis.

AMA Arch Ophthalmol. 1956 Jan;55(1):36-41. doi: 10.1001/archopht.1956.00930030038008.

[Cystinosis with de Toni-Debré-Fanconi syndrome; clinical and biological study].

Arch Fr Pediatr. 1954;11(8):806-30.

[Cystinuria, cystinosis, and De Toni-Debré-Fanconi disease].

Pediatrie. 1956;11(2):181-203.

[Cystinuria, cystinosis and De Toni-Debré-Fanconi disease].

Minerva Pediatr. 1956 Apr 14;8(15):558-69.

引用本文的文献

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.

BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2.

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis.

Kidney Int Rep. 2018 Jul 29;3(6):1489-1496. doi: 10.1016/j.ekir.2018.07.019. eCollection 2018 Nov.

Potential use of stem cells as a therapy for cystinosis.

Pediatr Nephrol. 2019 Jun;34(6):965-973. doi: 10.1007/s00467-018-3974-7. Epub 2018 May 22.

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Nat Rev Nephrol. 2017 Feb;13(2):115-131. doi: 10.1038/nrneph.2016.182. Epub 2016 Dec 19.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Clin Ophthalmol. 2014 Oct 10;8:2077-84. doi: 10.2147/OPTH.S36626. eCollection 2014.

Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. doi: 10.1016/j.survophthal.2006.10.006.

[Unclear, bilateral retinal dystrophy. 35-year old female patient with glare sensation].

Ophthalmologe. 2003 Nov;100(11):988-90. doi: 10.1007/s00347-002-0780-0.

Adult cystinosis: electron microscopy of the conjunctiva.

Graefes Arch Clin Exp Ophthalmol. 1982;219(3):143-5. doi: 10.1007/BF02152300.

The prognosis and management of renal tubular disorders.

Proc R Soc Med. 1967 Nov 1;60(11 Part 1):1149-52. doi: 10.1177/003591576706011P139.