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黏脂贮积症II型或I型细胞病的放射学表现。9例研究。

Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases.

作者信息

Lemaitre L, Remy J, Farriaux J P, Dhondt J L, Walbaum R

出版信息

Pediatr Radiol. 1978 Jun 19;7(2):97-105. doi: 10.1007/BF00975678.

DOI:10.1007/BF00975678
PMID:673536
Abstract

Nine cases of mucolipidosis II are presented with illustrations and a discussion of specific radiologic features: these distinguish Mucolipidosis II from other storage diseases.

摘要

本文展示了9例II型粘脂贮积症病例,并配有插图,同时讨论了其特定的放射学特征:这些特征将II型粘脂贮积症与其他贮积病区分开来。

相似文献

1
Radiological signs of mucolipidosis II or I-cell disease. A study of nine cases.黏脂贮积症II型或I型细胞病的放射学表现。9例研究。
Pediatr Radiol. 1978 Jun 19;7(2):97-105. doi: 10.1007/BF00975678.
2
Mucolipidosis II: correlation between radiological features and histopathology of the bones.黏脂贮积症II型:骨骼放射学特征与组织病理学的相关性
Pediatr Radiol. 1989;19(6-7):406-13. doi: 10.1007/BF02387638.
3
[Radiological case of the month. Type II mucolipidosis with neonatal disclosure].[当月放射病例。新生儿期发现的II型粘脂贮积症]
Arch Fr Pediatr. 1985 Aug-Sep;42(7):539-40.
4
Radiological features of neonatal mucolipidosis II (I-cell disease): a case report.新生儿黏脂贮积症II型(I细胞病)的放射学特征:一例报告
Radiat Med. 1985 Apr-Jun;3(2):95-8.
5
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features.轻度I型细胞病,或三例兄弟姐妹中的严重假性Hurler多营养不良:黏脂贮积症II型和III型中间形式的进一步证据。放射学特征。
Radiol Med. 1991 Dec;82(6):847-51.
6
Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.新生儿黏脂贮积症Ⅱ型。早期骨病变的自然演变及维生素D治疗的效果。两例报告。
Pediatr Radiol. 1989;20(1-2):80-4. doi: 10.1007/BF02010640.
7
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.
8
[I-cell disease (mucolipidosis II or sialidosis].
Minerva Pediatr. 1978 Jun 15;30(11):865-84.
9
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases.新生儿黏脂贮积症II型(I-细胞病)的佝偻病样放射学和生化特征:两例报告
Turk J Pediatr. 2005 Oct-Dec;47(4):376-8.
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Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases.新生儿黏脂贮积症II型(I细胞病):三例临床及影像学特征
AJR Am J Roentgenol. 1977 Jul;129(1):37-43. doi: 10.2214/ajr.129.1.37.

引用本文的文献

1
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.溶酶体贮积症:来自印度罕见病中心的临床、生化及分子特征
Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):686-692. doi: 10.4103/aian.AIAN_1009_20. Epub 2021 Mar 27.
2
A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking.一例I型细胞病(黏脂贮积症II型),产前超声显示股骨短小,骨干有明显的骨皮质增厚。
BJR Case Rep. 2016 Jul 28;2(3):20150420. doi: 10.1259/bjrcr.20150420. eCollection 2016.
3
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

本文引用的文献

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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.培养的人成纤维细胞中的突变酶学和细胞学表型。
Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.
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[Primary hyperparathyroidism in a newborn infant].[新生儿原发性甲状旁腺功能亢进症]
Ann Radiol (Paris). 1969;12(3):407-12.
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[Neonatal thrombopenia and type II mucolipidosis].[新生儿血小板减少症与II型粘脂贮积症]
表现为严重新生儿甲状旁腺功能亢进的II型粘脂贮积症。
Eur J Pediatr. 2005 Apr;164(4):236-43. doi: 10.1007/s00431-004-1591-x. Epub 2004 Dec 3.
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I-cell disease (Mucolipidosis II).I型细胞病(黏脂贮积症II型)
Indian J Pediatr. 2000 Sep;67(9):683-7. doi: 10.1007/BF02762185.
5
Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II).I型细胞病(粘脂贮积症II型)中的颅缝早闭和脑积水。
Childs Nerv Syst. 1987;3(1):55-7. doi: 10.1007/BF00707197.
6
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.胎儿黏脂贮积症II型(I细胞病):放射学与病理学相关性
Pediatr Radiol. 1986;16(1):32-9. doi: 10.1007/BF02387502.
7
Mucolipidosis II: correlation between radiological features and histopathology of the bones.黏脂贮积症II型:骨骼放射学特征与组织病理学的相关性
Pediatr Radiol. 1989;19(6-7):406-13. doi: 10.1007/BF02387638.
8
Study of the bone pathology in early mucolipidosis II (I-cell disease).早期黏脂贮积症II型(I-细胞病)的骨病理学研究。
Eur J Pediatr. 1989 Apr;148(6):553-7. doi: 10.1007/BF00441557.
9
Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.新生儿黏脂贮积症Ⅱ型。早期骨病变的自然演变及维生素D治疗的效果。两例报告。
Pediatr Radiol. 1989;20(1-2):80-4. doi: 10.1007/BF02010640.
10
Morphologic studies in the skeletal dysplasias.骨骼发育异常的形态学研究。
Am J Pathol. 1979 Sep;96(3):813-70.
Nouv Presse Med. 1972 Apr 15;1(16):1099.
4
[Type II mucolipidosis (I-cell disease)].[II型粘脂贮积症(I-细胞病)]
Arch Fr Pediatr. 1973 Jun-Jul;30(6):577-93.
5
I-cell disease (mucolipidosis II): a lysosomopathy.
Pediatrics. 1974 Dec;54(6):797-805.
6
I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.I型细胞病,即黏脂贮积症II型。4例病例的病理学、组织化学、超微结构及生物化学观察
Z Kinderheilkd. 1973;114(4):259-92.
7
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.对一例在组织培养中呈现I-细胞表型的软骨发育不良病例进行的临床、生化和超微结构研究。
J Pediatr. 1971 Sep;79(3):366-78. doi: 10.1016/s0022-3476(71)80143-9.
8
I-cell disease: a clinical picture.I细胞病:临床表现。
J Pediatr. 1971 Sep;79(3):360-5. doi: 10.1016/s0022-3476(71)80142-7.
9
Roentgenographic manifestations of Leroy's I-cell disease.勒鲁瓦I型细胞病的X线表现。
Am J Roentgenol Radium Ther Nucl Med. 1973 May;118(1):213-21. doi: 10.2214/ajr.118.1.213.
10
[One case of mucolipidosis type II (I. cell disease)].[II型黏脂贮积症(I型细胞病)1例]
Arch Fr Pediatr. 1972 Oct;29(8):895-6.