C Depetris de Boldini

P36 - Adavosertib-mediated wee1 inhibition as a strategy to overcome cisplatin resistance in non-seminoma testicular cancer: insights from preclinical models

Mariangela Tamburello, C Depetris de Boldini, Andrea Abate, Valentina Salvi et autres

Abstract Background/Introduction Testicular germ cell tumors (TGCTs) are the most common solid malignancy in young adult males with non-seminomatous representing a clinically aggressive subtype. Although cisplatin (CP)-based chemotherapy is highly effective, with cure rates exceeding 95%, a subset of patients develop resistance. …

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Mucopolysaccharidosis type VII (β‐glucuronidase deficiency): A chronic variant with an oligosymptomatic severe skeletal dysplasia

Raquel D. de Kremer, I Givogri, Carlos E. Argaraña, Ernesto Hliba et autres

We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he …

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[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage].

Raquel Dodelson de Kremer, Richard I. Kelley, C Depetris de Boldini, A. Paschini de Capra et autres

This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack …

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Variacion en la expresion fenotipica de la acidemia isovalerica en pacientes argentinos: observaciones de un prolongado seguimiento

Raquel Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, Ernesto Hliba et autres

Deficiencia en glucogeno sintetasa hepatica o glucogenosis tipo cero: fenotipo menos severo con defecto enzimático parcial

Raquel Dodelson de Kremer, A Paschini de Capra, C Depetris de Boldini, Ernesto Hliba et autres

Sandhoff disease: 36 Cases from Cordoba, Argentina

Raquel Dodelson de Kremer, C Depetris de Boldini, A. Paschini de Capra, Irma M. de Levstein et autres

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[Reye's syndrome].

Raquel Dodelson de Kremer, A Paschini de Capra, C Depetris de Boldini

L'acide glutaconique ou un analogue serait le responsable initial de la lesion mitochondriale. Sa production surviendrait sous l'effet de facteurs declenchant chez un enfant avec un defaut genetiquement transmissible de la glutaryl coenzyme A deshydrogenase, au niveau de la decarboxylation du glutaconyl …