A5075916488- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Parasitic Diseases Research and Treatment
- Diet and metabolism studies
- Child Nutrition and Feeding Issues
- ATP Synthase and ATPases Research
- Epigenetics and DNA Methylation
- Trypanosoma species research and implications
- Biomedical Research and Pathophysiology
- Oral and gingival health research
- Biochemical and Molecular Research
- Biotin and Related Studies
- Autophagy in Disease and Therapy
- Histone Deacetylase Inhibitors Research
- Clinical Nutrition and Gastroenterology
- Dialysis and Renal Disease Management
- Congenital Diaphragmatic Hernia Studies
- Ion Transport and Channel Regulation
- Pineapple and bromelain studies
- Intestinal Malrotation and Obstruction Disorders
- Insect behavior and control techniques
Garrahan Hospital
2015-2025
Hospital Italiano de Buenos Aires
2021
University of Mendoza
2021
International Society of Nephrology
2021
University of Buenos Aires
2021
Hospital General de Niños Ricardo Gutierrez
2021
National Water Research Center
2021
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).This is an international retrospective questionnaire study the use for management neutropenia/neutrophil dysfunction patients GSD Ib, conducted among respective health care providers from 24 countries across globe.Clinical data 112 were evaluated, representing a total 94 treatment years. The median age at start was 10.5 years...
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by in alpha-glucosidase. The classic infantile-onset the most broadly form of which presents with severe heart involvement clear hypotonia, while non-classic presentation occurs early motor involvement. Late-onset disease develops adults, but it may occur during childhood adolescence. Here we update available clinical diagnostic...
Many countries do not have a newborn screening (NBS) program, and immigrants from such are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 259 patients (20%) with diagnosed PKU were immigrants, 145 the (55%) born before NBS or in location without NBS.
Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to accumulation of various organs, causing hepatic, renal and cerebral impairment. Over 300 have been reported The aim this study was describe molecular characterization gene Argentinian patients with decreased activity, correlate results activity.37 activity below 6.3 μmol/h/g Hb (35% normal value) were...
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking deletions and common mutations in mtDNA. MtDNA's special features, such as large variable genome copies, heteroplasmy, polymorphisms, its duplication the nuclear pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used detect copy number variations genes application on mtDNA has not been widely spread. We report three Kearns...
To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico. This is a retrospective, observational, multicenter, multinational survey-based study using aggregate data. From an initial list of 40 sites, 22 clinicians expressed interest in completing the survey, with 20 from unique fulfilling all criteria. The Survey contained 28 questions, including respondent's clinic characteristics, treatment...
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment not established. Initial symptoms disorders cycle include neurological impairment mild or moderate liver damage. We report a case recurrent failure in infant diagnosed citrullinemia without severe involvement was...
Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents early infancy with failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical, biochemical, molecular findings, as well long-term outcomes, were collected.
To describe the clinical and molecular features of a group Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, to evaluate results implementation classical approach for diagnosis diseases.Clinical data from 27 confirmed mtDNA pathogenic variants were obtained database 89 suspected disease, registered 2014 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy studies analyzed.Patients 18 females 9 males, ages at onset ranging 1 week 14 years...
The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed time diagnosis (3 female excluded). Of this cohort, 13/48 had early-onset (EO), 23/48 late-onset (LO), 12/48 different presentation because they family risk background (FRB) been diagnosed since born. most frequent deficiency disorder was OTCD (65%). initial ammonium value evaluated, being higher EO group, statistically...
In August 2008, the province of Buenos Aires had not adhered to National law number 26279, that establishes obligatory nature neonatal screening for biotinidase deficiency, among other diseases. date, a girl was born in Aires. She admitted Hospital "J. P. Garrahan" with lethargy, metabolic acidosis, hiperlactacidemia, alopecia, conjuntivitis and scaly erythematous eruption trunk, at 58 days life, from pediatric intensive care unit. Due this clinic (13 evolution), assay serum done. This...
Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal liver complications. Data 36 patients,29 GSD Ia 7 Ib from a high complexity Hospital in Argentina was collected retrospectively. Collected data included diagnosis, anthropometric, biochemical parameters, therapy follow-up. Treatment increased Height SDS (p=0.012)....
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