[高苯丙氨酸血症诊断与治疗共识解读] - Suppr

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[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].

作者信息

Ye Jun, Gu Xuefan

机构信息

Email:

出版信息

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):430-2.

PMID:25190162

Abstract

摘要

相似文献

[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):430-2.

[Consensus about the diagnosis and treatment of hyperphenylalaninemia].

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):420-5.

Diagnosis and management of "malignant hyperphenylalaninemia".

N Engl J Med. 1979 Aug 23;301(8):441-2. doi: 10.1056/NEJM197908233010828.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1.

Successful treatment of phenylketonuria with tetrahydrobiopterin.

Eur J Pediatr. 2001 May;160(5):315. doi: 10.1007/pl00008436.

[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].

Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71.

Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.

J Pediatr. 1986 Oct;109(4):572-8. doi: 10.1016/s0022-3476(86)80215-3.

Neonatal hyperphenylalaninemia: a differential diagnosis.

Neuropadiatrie. 1970 Apr;1(4):434-46. doi: 10.1055/s-0028-1091829.

[Phenylketonuria (phenylalanine hydroxylase deficiency)].

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引用本文的文献

Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.

BMJ Open. 2019 Aug 22;9(8):e031474. doi: 10.1136/bmjopen-2019-031474.

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[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].

作者信息

Ye Jun, Gu Xuefan

机构信息

Email:

出版信息

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):430-2.

PMID:25190162

Abstract

摘要

相似文献

[Interpretation of the consensus about the diagnosis and treatment of hyperphenylalaninemia].

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):430-2.

[Consensus about the diagnosis and treatment of hyperphenylalaninemia].

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):420-5.

Diagnosis and management of "malignant hyperphenylalaninemia".

N Engl J Med. 1979 Aug 23;301(8):441-2. doi: 10.1056/NEJM197908233010828.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1.

Successful treatment of phenylketonuria with tetrahydrobiopterin.

Eur J Pediatr. 2001 May;160(5):315. doi: 10.1007/pl00008436.

[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].

Ann Biol Clin (Paris). 2002 Mar-Apr;60(2):165-71.

Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.

J Pediatr. 1986 Oct;109(4):572-8. doi: 10.1016/s0022-3476(86)80215-3.

Neonatal hyperphenylalaninemia: a differential diagnosis.

Neuropadiatrie. 1970 Apr;1(4):434-46. doi: 10.1055/s-0028-1091829.

[Phenylketonuria (phenylalanine hydroxylase deficiency)].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):114-8.

Hyperphenylalaninemia in the Philippines.

Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:182-4.

引用本文的文献

Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.

BMJ Open. 2019 Aug 22;9(8):e031474. doi: 10.1136/bmjopen-2019-031474.