Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

Chin Med J (Engl). 2015 Nov 5;128(21):2979-80. doi: 10.4103/0366-6999.168084.

Authors

Jun Ye, Wen-Juan Qiu, Lian-Shu Han, Hui-Wen Zhang, Xue-Fan Gu¹

Affiliation

¹ Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Calcium-Binding Proteins / deficiency*
Humans
Infant
Male
Organic Anion Transporters / deficiency*
Phenylketonurias / complications*
Phenylketonurias / diagnosis
Phenylketonurias / etiology

Substances

Calcium-Binding Proteins
Organic Anion Transporters
citrin