Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease;Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

Medicina Clinica

Volumn 137, Issue 11, 2011, Pages 500-503

  Couce, María Luz ^a   Pérez Cerdá, Celia ^b,c   García Silva, María Teresa ^d   García Cazorla, Angels ^c,e   Martín Hernández, Elena ^d   Castiñeiras, Daisy ^a   Pineda, Merè ^c,e   Navarrete, Rosa ^b,c   Campistol, Jaume ^c,e   Fraga, José María ^a   Pérez, Belén ^b,c   Ugarte, Magdalena ^b,c  

^a University Hospital of Santiago de Compostela   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

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

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Biotin sensitive seizures; Gene mutations; Hearing loss; Inherited metabolic disorders; Newborn screening

Indexed keywords

BIOTIN;

ARTICLE; BIOTINIDASE DEFICIENCY; GENETICS; HEARING LOSS; HUMAN; METABOLIC DISORDER; MUTATION; MYOCLONUS SEIZURE; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING;

ADOLESCENT; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; CHILD, PRESCHOOL; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; METABOLIC DISEASES; MUTATION; NEONATAL SCREENING; VITAMIN B COMPLEX;

EID: 80053619522     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2011.01.018     Document Type: Article

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