New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman Disease)

Journal of Pediatric Gastroenterology and Nutrition

Volumn 60, Issue 3, 2015, Pages e22-e24

  Gómez Nájera, Mariana ^a   Barajas Medina, Hilario ^a   Gallegos Rivas, Mayra C ^a   Mendez Sashida, Pedro ^b   Goss, Kendrick A ^c   Sims, Katherine B ^c   Tripuraneni, Radhika ^d   Valles Ayoub, Yadira ^e  

^a Hospital de Gineco pediatría Número 48   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d Synageva BioPharma Corp   (United States)

^e HIBM Research Group   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; INFUSION FLUID; URSODEOXYCHOLIC ACID; VITAMIN; CHOLESTEROL ESTERASE; LIPA PROTEIN, HUMAN;

ANEMIA; ARTICLE; ASCITES; BLOOD SMEAR; CARDIOGENIC SHOCK; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; EDEMA; ENZYME DEFICIENCY; FEMALE; FEVER; GROWTH DISORDER; HEPATOSPLENOMEGALY; HUMAN; JAUNDICE; LIVER FAILURE; LUNG EDEMA; LYSOSOMAL ACID LIPASE DEFICIENCY; MEXICO; NEWBORN; OLIGURIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; RHINORRHEA; THROMBOCYTOPENIA; ADRENAL GLAND DISEASES; AMINO ACID SUBSTITUTION; CALCINOSIS; CEREBROSPINAL FLUID RHINORRHEA; DIFFERENTIAL DIAGNOSIS; FAMILY HEALTH; FATALITY; GENETICS; HEPATOMEGALY; INFANT; MULTIMODALITY CANCER THERAPY; MUTATION; PATHOPHYSIOLOGY; SPLENOMEGALY; WOLMAN DISEASE;

ADRENAL GLAND DISEASES; AMINO ACID SUBSTITUTION; CALCINOSIS; CEREBROSPINAL FLUID RHINORRHEA; COMBINED MODALITY THERAPY; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FEVER; HEPATOMEGALY; HUMANS; INFANT; MEXICO; MUTATION; SPLENOMEGALY; STEROL ESTERASE; WOLMAN DISEASE;

EID: 84926408775     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000175     Document Type: Article

References (11)

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