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(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

artículo científico publicado en 2015

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

artículo científico publicado en 2012

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

artículo científico publicado en 2015

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

artículo científico publicado en 2017

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder

scientific article published on 06 June 2018

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

artículo científico publicado en 2002

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

artículo científico publicado en 2010

ADP-dependent glucokinase as a novel onco-target for haematological malignancies

scientific article published on 12 August 2020

ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing

artículo científico publicado en 2019

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

artículo científico publicado en 2017

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

artículo científico publicado en 2015

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

artículo científico publicado en 2016

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI

artículo científico publicado en 2018

Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.

artículo científico publicado en 2016

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

artículo científico publicado en 2020

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye

artículo científico publicado en 2020

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

artículo científico publicado en 2015

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

artículo científico publicado en 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation

scientific article published on 14 January 2019

Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

artículo científico publicado en 2005

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons

artículo científico publicado en 2002

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

scientific article published on 01 February 2019

Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae

scientific article published on 24 April 2020

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons

artículo científico publicado en 2002

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

scientific article published on 22 March 2019

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience

artículo científico publicado en 2012

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

artículo científico publicado en 2022

Congenital glutamine deficiency with glutamine synthetase mutations

artículo científico publicado en 2006

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

artículo científico publicado en 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

artículo científico publicado en 2017

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

artículo científico publicado en 2020

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism

artículo científico publicado en 2020

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

artículo científico

Cystathionine β-synthase deficiency in the E-HOD registry-Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

scientific article published on 09 December 2020

Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors

artículo científico publicado en 2003

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

artículo científico publicado en 2012

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

artículo científico publicado en 2007

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

artículo científico publicado en 2019

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

scientific article published on 25 November 2019

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

artículo científico publicado en 2020

Deorphanization of GPR109B as a receptor for the beta-oxidation intermediate 3-OH-octanoic acid and its role in the regulation of lipolysis

artículo científico publicado en 2009

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

artículo científico publicado en 2017

Diagnosis and management of glutaric aciduria type I – revised recommendations ⬇️

artículo científico publicado el 23 de marzo de 2011

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

artículo científico publicado el 27 de octubre de 2010

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

artículo científico publicado en 2009

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

artículo científico publicado en 2016

Early prediction of phenotypic severity in Citrullinemia Type 1

scientific article published on 30 August 2019

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism

artículo científico publicado en 2017

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

artículo científico publicado en 2013

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

artículo científico publicado en 2015

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

scientific article published on 27 February 2019

FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis

scientific article published on 08 April 2020

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

artículo científico publicado en 2020

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

scientific article published on 11 February 2019

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

artículo científico publicado en 2019

Genetic cause and prevalence of hydroxyprolinemia

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

artículo científico publicado en 2020

Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus

artículo científico

Health-related quality of life in paediatric patients with intoxication type inborn errors of metabolism: analysis of an international dataset

artículo científico publicado en 2020

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots

artículo científico publicado en 2019

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

scientific article published on 13 May 2019

Impact of age at onset and newborn screening on outcome in organic acidurias

artículo científico publicado en 2015

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

artículo científico publicado en 2017

Impact of interventional and non-interventional variables on Anthropometric Long-Term Development In Glutaric Aciduria Type 1: A National Prospective Multi-Centre Study

artículo científico publicado en 2020

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

artículo científico publicado en 2020

Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex

artículo científico publicado en 2016

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

artículo científico publicado en 2016

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

scientific article published on 20 February 2020

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

artículo científico publicado en 2017

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

artículo científico publicado en 2019

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C.

artículo científico publicado en 2002

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency

artículo científico publicado en 2006

Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function

Issues with European guidelines for phenylketonuria

scholarly article by Peter Burgard et al published September 2017 in The Lancet: Diabetes & Endocrinology

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

artículo científico publicado en 2017

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism. An overview on European data ⬇️

artículo científico publicado en 2020

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

artículo científico publicado en 2020

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

artículo científico publicado en 2020

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

artículo científico publicado en 2007

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

artículo científico publicado en 2012

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

scientific article published on 27 February 2020

Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?

artículo científico publicado en 2006

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

artículo científico publicado en 2012

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain

artículo científico publicado en 2003

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

artículo científico publicado en 2015

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

artículo científico publicado en 2019

NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria

artículo científico publicado en 2002

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

artículo científico publicado en 2006

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years

artículo científico publicado en 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

artículo científico publicado en 2015

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity

artículo científico publicado en 2002

Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

scholarly article

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort

artículo científico publicado en 2005

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias

artículo científico publicado en 2016

Newborn Screening in a Pandemic—Lessons Learned

artículo científico publicado en 2023

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

artículo científico publicado en 2013

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

Newborn screening, a disease-changing intervention for glutaric aciduria type 1.

artículo científico publicado en 2018

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

artículo científico publicado en 2016

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

scientific article published on 13 November 2018

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type [...]

artículo científico publicado en 2014

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts

artículo científico publicado en 2004

Organic acidurias: major gaps, new challenges, and a yet unfulfilled promise

artículo científico publicado en 2020

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

artículo científico publicado en 2020

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

artículo científico publicado en 2004

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1

scientific article published on 01 January 2019

Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases

artículo científico publicado en 2024

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase

artículo científico publicado en 2018

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

artículo científico publicado en 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

artículo científico publicado en 2018

Phenylalanine reduces synaptic density in mixed cortical cultures from mice

artículo científico publicado en 2006

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

artículo científico publicado en 2016

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

artículo científico publicado en 2019

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders

artículo científico publicado en 2005

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

artículo científico publicado en 2017

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study

scientific article published on 28 January 2019

Quantitative retrospective natural history modeling for orphan drug development

scientific article published on 26 August 2020

Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

artículo científico publicado en 2021

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy

artículo científico publicado en 2015

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

artículo científico publicado en 2018

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

artículo científico publicado en 2006

Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report

artículo científico publicado en 2014

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

artículo científico publicado en 2020

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorder

artículo científico publicado en 2017

Targeted Metabolic Profiling of Methionine Cycle Metabolites and Redox Thiol Pools in Mammalian Plasma, Cells and Urine

artículo científico publicado en 2019

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

artículo científico publicado en 2020

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

artículo científico publicado en 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

artículo científico publicado en 2015

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I ⬇️

artículo científico publicado el 4 de octubre de 2010

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

artículo científico publicado en 2019

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

artículo científico publicado en 2008

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis

scientific article published on 24 July 2019

Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.

artículo científico publicado en 2014

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.

artículo científico publicado en 2014

Use of guidelines improves the neurological outcome in glutaric aciduria type I.

artículo científico publicado en 2010

Usefulness of biochemical parameters in decision‐making on the start of emergency treatment in patients with propionic acidemia ⬇️

artículo científico publicado el 25 de junio de 2013

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