5-oxoprolinuria in heterozygous patients for 5-oxoprolinase (OPLAH) missense changes

JIMD Reports

Volumn 7, Issue , 2013, Pages 123-128

  Calpena, Eduardo ^a   Casado, Mercedes ^b   Martínez Rubio, Dolores ^a   Nascimento, Andrés ^b   Colomer, Jaume ^b   Gargallo, Eva ^b   García Cazorla, Angels ^b   Palau, Francesc ^a   Artuch, Rafael ^b   Espinós, Carmen ^c,d  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Denature high performance liquid chromatography; Glutathione synthetase; Inborn error; Pyroglutamic acid; Urine organic acid

Indexed keywords

EID: 84902977671     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_166     Document Type: Chapter

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