Premature Pubarche in Children with Pompe Disease

被引：5

作者：

Tan, Queenie K. -G. ^{[1
]}

Stockton, David W. ^{[2
,3
,4
]}

Pivnick, Eniko ^{[5
,6
]}

Choudhri, Asim F. ^{[7
,8
,9
,10
]}

Hines-Dowell, Stacy ^{[5
,6
]}

Pena, Loren D. M. ^{[1
]}

Deimling, Melissa A.

Freemark, Michael S. ^{[11
]}

Kishnani, Priya S. ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA

[2] Wayne State Univ, Dept Pediat, Div Genet & Metab Disorders, Detroit, MI 48202 USA

[3] Wayne State Univ, Dept Internal Med, Detroit, MI 48202 USA

[4] Childrens Hosp Michigan, Detroit, MI 48201 USA

[5] Univ Tennessee, Div Med Genet, Dept Pediat, Knoxville, TN 37996 USA

[6] Le Bonheur Childrens Hosp, Memphis, TN USA

[7] Univ Tennessee, Dept Radiol, Hlth Sci Ctr, Memphis, TN USA

[8] Univ Tennessee, Dept Ophthalmol, Hlth Sci Ctr, Memphis, TN USA

[9] Univ Tennessee, Dept Neurosurg, Hlth Sci Ctr, Memphis, TN USA

[10] Le Bonheur Childrens Hosp, Le Bonheur Neurosci Inst, Memphis, TN USA

[11] Duke Univ, Med Ctr, Dept Pediat, Endocrinol, Durham, NC 27710 USA

来源：

JOURNAL OF PEDIATRICS | 2015年 / 166卷 / 04期

基金：

美国国家卫生研究院;

关键词：

ONSET; GIRLS; ADRENARCHE; THERAPY;

D O I：

10.1016/j.jpeds.2014.12.074

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid a-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case series of 8 patients with infantile-onset PD on enzyme replacement therapy with premature pubarche.

引用

页码：1075 / U403

页数：5

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