List of works - Daniela Karall

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

scientific article published on 25 June 2015

ALG8-CDG: novel patients and review of the literature

scientific article

Amino acid metabolism in patients with propionic acidaemia

scientific article

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

scientific article published on 30 September 2016

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

scientific article

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

scientific article published on 25 May 2015

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

scientific article

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

scientific article published on October 2009

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

scientific article published on 22 February 2015

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

scientific article published on 14 April 2015

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

scientific article published on 19 June 2013

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

scientific article

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

scientific article published on January 31, 2013

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

scientific article published on 31 January 2017

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

scientific article

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

scientific article

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

scientific article published on 18 March 2016

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

scientific article published on 29 December 2012

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

scientific article

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

scientific article

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

scientific article published on 10 January 2013

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

scientific article

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).

scientific article published on 20 June 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

scientific article published on 17 March 2015

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Suggested guidelines for the diagnosis and management of urea cycle disorders

scientific article

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

scientific article

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

scientific article

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

scientific article

List of works by 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