Lista de obras -

Acute Cerebral Symptoms in a Child with Down Syndrome and Acute Leukemia - What has to be Considered?

artículo científico publicado en 2017

Autologous stem cell transplantation in refractory paediatric Wegener's granulomatosis

artículo científico publicado el 1 de septiembre de 2011

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

artículo científico publicado en 2005

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

artículo científico publicado en 2003

Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature

artículo científico publicado en 2017

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

artículo científico publicado en 2008

Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS)

scientific article published on 03 July 2020

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

scientific article published on October 2010

Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant

artículo científico publicado en 2014

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

scientific article published on 17 November 2020

Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results

artículo científico publicado en 2010

Mucoepidermoid carcinoma as an unusual cause for recurrent respiratory infections in a child

artículo científico publicado en 2005

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

artículo científico publicado en 2016

Orbital inflammation and colitis in pediatric IgG4-related disease: A case report and review of the literature

artículo científico publicado en 2019

Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease

artículo científico publicado en 2011

Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting : Toronto, Canada. 14-17 April 2016

article

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

artículo científico publicado en 2016

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

article

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

artículo científico publicado en 2004

Thoracic actinomycosis imitating a malignant chest wall tumor. Diagnosis: pulmonary actinomycosis

artículo científico publicado en 2007

Treatment Response and Longterm Outcomes in Children with Chronic Nonbacterial Osteomyelitis.

artículo científico publicado en 2017

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

artículo científico publicado en 2004

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene

artículo científico publicado en 2009

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

artículo científico publicado en 2016

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

artículo científico publicado en 2017

Lista de obras de

Acute Cerebral Symptoms in a Child with Down Syndrome and Acute Leukemia - What has to be Considered?

Autologous stem cell transplantation in refractory paediatric Wegener's granulomatosis

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS)

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

Infantile myofibromatosis as an unusual cause for unilateral atelectasis in an infant

Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?

Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results

Mucoepidermoid carcinoma as an unusual cause for recurrent respiratory infections in a child

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Orbital inflammation and colitis in pediatric IgG4-related disease: A case report and review of the literature

Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease

Proceedings of the 2016 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Scientific Meeting : Toronto, Canada. 14-17 April 2016

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

Thoracic actinomycosis imitating a malignant chest wall tumor. Diagnosis: pulmonary actinomycosis

Treatment Response and Longterm Outcomes in Children with Chronic Nonbacterial Osteomyelitis.

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene