Daniel Fantozzi Garcia

Expanded clinical experience of children with homozygous familial hypercholesterolaemia (HOFH) under 5 years of age treated with evinacumab through compassionate use programs

Brian W. McCrindle, Elena Fornari, Geetha Raghuveer, Valentina Mancioppi et autres

ca, it, us, hr, au (code pays fourni par la source)

Comparison of Model‐Predicted and Observed Evinacumab Pharmacokinetics and Efficacy in Children Aged < 5 Years With Homozygous Familial Hypercholesterolemia

Sébastien Bihorel, Robert K. Dingman, Jeanne Mendell, Katy C. Norman et autres

Evinacumab, an angiopoietin-like 3 inhibitor, significantly reduces low-density lipoprotein cholesterol (LDL-C) in patients with homozygous familial hypercholesterolemia (HoFH). Herein, we report pharmacokinetic and efficacy analyses of evinacumab in < 5-year-old patients with HoFH. Population pharmacometric models characterizing evinacumab exposure and LDL-C response …

us, ca, it, hr, au (code pays fourni par la source)

Teaching Neuro Images : Morgagni-Stewart-Morel

Joseph Bruno Bidin Brooks, Yára Dadalti Fragoso, Daniel Fantozzi Garcia, Wilson A. Silva et autres

A 30-year-old woman presented with a 4-year history of slowly progressive memory loss, frontal headache, vertigo, depression, and seizures (normal EEG), and earlier history of endocrine disease (diabetes mellitus, obesity, hirsutism, and hypothyroidism). Sagittal cranial T1-weighted MRI, CT scan, and x-ray showed …

br (code pays fourni par la source)

Molecular basis of various forms of maple syrup urine disease in Chilean patients

Diana Ruffato Resende Campanholi, Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia et autres

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD …

br, cl (code pays fourni par la source)

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta et autres

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominantly …

br (code pays fourni par la source)

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta et autres

Abstract Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is …

br, cz (code pays fourni par la source)

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta et autres

br, cz (code pays fourni par la source)

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta et autres

br, cz (code pays fourni par la source)

Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease

Diana Ruffato Resende Campanholi, Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia et autres

Abstract Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. …

br, cl (code pays fourni par la source)

Identification of Four New Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease and Genotype-Phenotype Correlations

Diana Ruffato Resende Campanholi, Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia et autres

Abstract Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD …

br, cl (code pays fourni par la source)

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

Ana Vitória Barban Margutti, Wilson A. Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta et autres

br, cz (code pays fourni par la source)

Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State

Laís Ribeiro Mota, Valmir Machado de Melo Filho, Lorena Castro, Daniel Fantozzi Garcia et autres

br (code pays fourni par la source)