Lista de obras - Daniela Karall - Dominio Público Uruguay

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience

artículo científico publicado en 2015

ALG8-CDG: novel patients and review of the literature

artículo científico publicado en 2015

Amino acid metabolism in patients with propionic acidaemia

artículo científico publicado en 2010

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach

artículo científico publicado en 2016

Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience

artículo científico publicado en 2016

Breast-feeding Duration: Early Weaning-Do We Sufficiently Consider the Risk Factors?

artículo científico publicado en 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia

artículo científico publicado en 2009

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

artículo científico publicado en 2015

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

artículo científico publicado en 2015

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

artículo científico publicado en 2013

Diagnosing lactose malabsorption in children: difficulties in interpreting hydrogen breath test results

artículo científico publicado en 2016

Early sudden unexpected death in infancy (ESUDI)--three case reports and review of the literature

artículo científico

Former very preterm infants show alterations in plasma amino acid profiles at a preschool age.

artículo científico publicado en 2017

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

artículo científico publicado en 2007

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland

artículo científico publicado en 2017

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

artículo científico publicado en 2016

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

artículo científico publicado en 2012

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

artículo científico publicado en 2012

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy

artículo científico publicado en 2012

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

artículo científico publicado en 2013

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

artículo científico publicado en 2014

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

artículo científico publicado en 2012

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

Spectrum of combined respiratory chain defects

artículo científico publicado en 2015

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

artículo científico publicado en 2016

Suggested guidelines for the diagnosis and management of urea cycle disorders

artículo científico publicado en 2012

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

artículo científico publicado en 2014

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol

artículo científico publicado en 2012

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction

artículo científico publicado en 2017

Lista de obras de Daniela Karall

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience

ALG8-CDG: novel patients and review of the literature

Amino acid metabolism in patients with propionic acidaemia

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach

Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience

Breast-feeding Duration: Early Weaning-Do We Sufficiently Consider the Risk Factors?

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Diagnosing lactose malabsorption in children: difficulties in interpreting hydrogen breath test results

Early sudden unexpected death in infancy (ESUDI)--three case reports and review of the literature

Former very preterm infants show alterations in plasma amino acid profiles at a preschool age.

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Spectrum of combined respiratory chain defects

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Suggested guidelines for the diagnosis and management of urea cycle disorders

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction