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Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2.严重扩张型心肌病是2型黏脂贮积症患儿中一种不常见的表现。
Images Paediatr Cardiol. 2006 Oct;8(4):1-6.
2
Dilated cardiomyopathy in mucolipidosis type 2.2 型黏脂贮积症中的扩张型心肌病。
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[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].伴有异常严重心脏受累的II型粘脂贮积症（I细胞病）
Monatsschr Kinderheilkd. 1987 Oct;135(10):708-11.
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[Mucolipidosis. biologic characteristics (author's transl)].
An Esp Pediatr. 1979 Aug-Sep;12(8-9):563-74.
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Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.短暂性新生儿甲状旁腺功能亢进症：II型黏脂贮积症的一种表现特征。
J Pediatr Endocrinol Metab. 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859.
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I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.I型细胞病（黏脂贮积症II型α/β型）：从筛查到分子诊断
Indian J Pediatr. 2017 Feb;84(2):144-146. doi: 10.1007/s12098-016-2243-7. Epub 2016 Oct 27.
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Early characteristic radiographic changes in mucolipidosis II.黏脂贮积症II型的早期特征性影像学改变。
Pediatr Radiol. 2016 Nov;46(12):1713-1720. doi: 10.1007/s00247-016-3673-0. Epub 2016 Aug 15.
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Clinical and biochemical expression of a unique mucopolysaccharidosis.一种独特的黏多糖贮积症的临床和生化表现
Clin Genet. 1976 Apr;9(4):399-411. doi: 10.1111/j.1399-0004.1976.tb02269.x.
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Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.巴西 II/III 型黏脂贮积症患者的临床和影像学表现。
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Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature.新生儿心力衰竭与黏多糖贮积症所致的心肌致密化不全/扩张型心肌病。文献首次描述。
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引用本文的文献
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Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.重度扩张型心肌病作为II型唾液酸贮积症婴儿的一种不寻常临床表现。
JIMD Rep. 2023 Jan 7;64(2):156-160. doi: 10.1002/jmd2.12357. eCollection 2023 Mar.
2
Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.不适当的组织蛋白酶 K 分泌促进其酶活性的激活，导致心脏和瓣膜畸形。
JCI Insight. 2020 Oct 15;5(20):133019. doi: 10.1172/jci.insight.133019.
本文引用的文献
1
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).X连锁型心肌骨骼肌病伴中性粒细胞减少症（巴特综合征）（基因解码在线孟德尔人类遗传数据库编号302060）
J Inherit Metab Dis. 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936.
2
The causes of dilated cardiomyopathy: a clinicopathologic review of 673 consecutive patients.扩张型心肌病的病因：对673例连续患者的临床病理回顾
J Am Coll Cardiol. 1994 Mar 1;23(3):586-90. doi: 10.1016/0735-1097(94)90740-4.
3
[Normal values of M-mode echocardiographic parameters in children].
Cesk Pediatr. 1984 Dec;39(12):699-708.
4
[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].伴有异常严重心脏受累的II型粘脂贮积症（I细胞病）
Monatsschr Kinderheilkd. 1987 Oct;135(10):708-11.
5
I-cell disease: clinical studies of 21 Japanese cases.
Clin Genet. 1985 Sep;28(3):207-15. doi: 10.1111/j.1399-0004.1985.tb00388.x.
6
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.一系列特发性扩张型心肌病患者中家族性扩张型心肌病的发生率。
N Engl J Med. 1992 Jan 9;326(2):77-82. doi: 10.1056/NEJM199201093260201.
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