New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize Its Manifestation in Infants (Wolman Disease)

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Veröffentlicht in:	Journal of pediatric gastroenterology and nutrition 2015-03, Vol.60 (3), p.e22-e24-e22-e24
Hauptverfasser:	Gómez‐Nájera, Mariana, Barajas‐Medina, Hilario, Gallegos‐Rivas, Mayra C., Mendez‐Sashida, Pedro, Goss, Kendrick A., Sims, Katherine B., Tripuraneni, Radhika, Valles‐Ayoub, Yadira
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Gland Diseases - etiology Amino Acid Substitution Calcinosis - etiology Cerebrospinal Fluid Rhinorrhea - etiology Combined Modality Therapy Diagnosis, Differential Disease Progression Family Health Fatal Outcome Female Fever - etiology Hepatomegaly - etiology Humans Infant Mexico Mutation Splenomegaly - etiology Sterol Esterase - genetics Wolman Disease Wolman Disease - diagnosis Wolman Disease - genetics Wolman Disease - physiopathology Wolman Disease - therapy
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