Pyridoxine -5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (vol 122, pg 135, 2017)

被引：2

作者：

di Salvo, Martino L. ^{[1
]}

Mastrangelo, Mario ^{[2
]}

Nogues, Isabel ^{[3
]}

Tolve, Manuela ^{[4
]}

Paiardini, Alessandro ^{[5
]}

Carducci, Carla ^{[4
]}

Mei, Davide ^{[6
]}

Montomoli, Martino ^{[6
]}

Tramonti, Angela ^{[7
]}

Guerrini, Renzo ^{[6
]}

Contestabile, Roberto ^{[1
]}

Leuzzi, Vincenzo ^{[2
]}

机构：

[1] Sapienza Univ Roma, Dipartimento Sci Biochim A Rossi Fanelli, Rome, Italy

[2] Sapienza Univ Roma, Dipartimento Pediat & Neuropsichiatria Infantile, Rome, Italy

[3] CNR, Ist Biol Ambientale & Forestale, Rome, Italy

[4] Sapienza Univ Roma, Dipartimento Med Sperimentale, Rome, Italy

[5] Sapienza Univ Roma, Dipartimento Biol & Biotecnol Charles Darwin, Rome, Italy

[6] Univ Firenze, Dipartimento Neurosci, Azienda Osped Univ Meyer, Florence, Italy

[7] CNR, Ist Biol & Patol Mol, Rome, Italy

来源：

关键词：

D O I：

10.1016/j.ymgme.2018.02.017

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：359 / 359

页数：1

Pyridoxine -5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g &gt; A (vol 122, pg 135, 2017)