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Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism.

Marín-Valencia, I; Vilaseca, M A; Thió, M; García-Cazorla, A; Artuch, R; Campistol, J.

Eur J Paediatr Neurol ; 14(2): 125-30, 2010 Mar.

Article in English | MEDLINE | ID: mdl-19515591

ABSTRACT

AIM: To assess the efficacy of the perimortem protocol in neonates with suspected inborn errors of metabolism (IEM). METHODS: Retrospective analysis of medical records from January 2000 through December 2007 was performed. Only neonates (

Subject(s)

Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/mortality , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Diagnosis, Differential , Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Male , Motor Skills Disorders/diagnosis , Motor Skills Disorders/epidemiology , Predictive Value of Tests , Retrospective Studies , Severity of Illness Index

Severe generalized oedema with haemodynamic instability in a previously healthy patient (Case Presentation).

Marín-Valencia, I; Antón, J; Ros, J; Cols, M.

Acta Paediatr ; 98(3): 420, 600-1, 2009 Mar.

Article in English | MEDLINE | ID: mdl-19183358

Subject(s)

Edema/etiology , Mucocutaneous Lymph Node Syndrome/diagnosis , Capillary Permeability , Child, Preschool , Hemodynamics , Humans , Male , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/drug therapy , Mucocutaneous Lymph Node Syndrome/physiopathology

[Atloaxoid spondylitis. An infrequent cause of torticollis]. / Espondilitis atlantoaxoidea. Una causa infrecuente de tortícolis.

Marín Valencia, I; García García, J J; Fasheh Youssef, W; Frías Riu, J L; Luaces Cubells, C.

An Pediatr (Barc) ; 63(3): 270-1, 2005 Sep.

Article in Spanish | MEDLINE | ID: mdl-16219288

Subject(s)

Spondylitis/complications , Torticollis/etiology , Adolescent , Atlanto-Axial Joint , Humans , Male

Espondilitis atlantoaxoidea. Una causa infrecuente de tortícolis / Atloaxoid spondylitis. An infrequent cause of torticolis

Marín Valencia, I; García García, JJ; Fasheh Youssef, W; Frías Riu, JL; Luaces Cubells, C.

An. pediatr. (2003, Ed. impr.) ; 63(3): 270-271, sept. 2005.

Article in Es | IBECS | ID: ibc-041311

ABSTRACT

No disponible

Subject(s)

Male , Adolescent , Humans , Spondylitis/complications , Torticollis/etiology , Atlanto-Axial Joint

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