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<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

artículo científico publicado en 2021

A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.

artículo científico

A prospective clinical pilot-trial comparing the effect of an optimized mixed diet versus a flexible low-glycemic index diet on nutrient intake and HbA1c levels in children with type 1 diabetes ⬇️

artículo científico publicado el 1 de enero de 2011

Aberrant plasma IL-7 and soluble IL-7 receptor levels indicate impaired T-cell response to IL-7 in human tuberculosis.

artículo científico publicado en 2017

Abuse of the over-the-counter antispasmodic butylscopolamine for the home synthesis of psychoactive scopolamine

artículo científico publicado en 2015

Acceptability of Multiple Uncoated Minitablets in Infants and Toddlers: A Randomized Controlled Trial

scientific article published on 28 June 2018

Acceptability of an Orodispersible Film Compared to Syrup in Neonates and Infants: A Randomized Controlled Trial

scientific article published on 26 April 2020

Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation

artículo científico publicado en 2003

Acute purulent pericarditis in pneumococcal meningitis

artículo científico publicado en 2005

Acylcarnitine profiles of preterm infants over the first four weeks of life

artículo científico publicado en 2002

Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse

artículo científico publicado en 2013

Analysis of Documentation Speed Using Web-Based Medical Speech Recognition Technology: Randomized Controlled Trial

artículo científico publicado en 2015

Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism.

artículo científico

Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism.

artículo científico publicado en 2012

Aspects of Newborn Screening in Isovaleric Acidemia

scientific article published on 29 January 2018

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

artículo científico publicado en 2006

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

scientific article published on 30 January 2020

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

artículo científico publicado en 2019

Biallelic mutations in cause developmental and epileptic encephalopathy

Bile Acid-Induced Suicidal Erythrocyte Death.

artículo científico publicado en 2016

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome

artículo científico publicado en 2013

Blue Diaper Syndrome and PCSK1 Mutations

artículo científico publicado en 2018

Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene ⬇️

artículo científico publicado el 1 de junio de 2012

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

artículo científico publicado en 2002

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency

scientific article published in 2023

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Clinical and genetic heterogeneity in congenital hyperinsulinism

artículo científico publicado en 2002

Coenzyme Q10 in plasma and erythrocytes: comparison of antioxidant levels in healthy probands after oral supplementation and in patients suffering from sickle cell anemia

artículo científico publicado en 2002

Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia

artículo científico publicado en 2020

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

artículo científico publicado en 2008

Conjugated bilirubin triggers anemia by inducing erythrocyte death

artículo científico publicado en 2014

Cooperative role of lymphotoxin β receptor and tumor necrosis factor receptor p55 in murine liver regeneration

artículo científico publicado en 2015

Crossed Cerebellar Diaschisis after Status Epilepticus in a Young Child ⬇️

artículo científico publicado el 3 de abril de 2012

Cystic renal dysplasia as a leading sign of inherited metabolic disease

artículo científico publicado en 2007

Deficient α-galactosidase A activity in plasma but no Fabry disease – a pitfall in diagnosis

scientific article published on 01 January 2005

Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay

artículo científico publicado en 2006

Early clinical experiences with the new influenza A (H1N1/09)

artículo científico publicado en 2009

Estrogen Receptor Alpha Expression in Podocytes Mediates Protection against Apoptosis In-Vitro and In-Vivo ⬇️

artículo científico publicado el 11 de noviembre de 2011

Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria

artículo científico publicado en 2002

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

artículo científico publicado en 2003

Fabry disease-often seen, rarely diagnosed

artículo científico publicado en 2009

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up

artículo científico publicado en 2006

Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

artículo científico publicado en 2017

Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury

scientific article published on 13 August 2019

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

artículo científico publicado en 2004

Glycogen storage disease type Ib without hypoglycemia

scientific article published on 14 December 2006

HbG200-mediated preinduction of heme oxygenase-1 improves bile flow and ameliorates pericentral downregulation of Bsep and Mrp2 following experimental liver ischemia and reperfusion

artículo científico publicado en 2013

Health behaviour in children and adolescents with type 1 diabetes compared to a representative reference population

artículo científico publicado en 2014

Hunter disease before and during enzyme replacement therapy

scientific article published on 01 September 2011

Hypertrichosis in presymptomatic mitochondrial disease

artículo científico publicado en 2013

IL-13 as Target to Reduce Cholestasis and Dysbiosis in Abcb4 Knockout Mice

artículo científico publicado en 2020

Inborn errors of carbohydrate metabolism

artículo científico publicado en 2010

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

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I ⬇️

artículo científico publicado el 10 de noviembre de 2010

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency

artículo científico publicado en 2008

Invasive nontypeable Haemophilus influenzae infections in Germany: a case report of a previously healthy 7-year-old boy with an intracranial abscess, and epidemiological data from 2001 to 2004.

artículo científico publicado en 2006

Lack of creatine in muscle and brain in an adult with GAMT deficiency

artículo científico publicado en 2003

Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients

artículo científico publicado en 2009

Liver cirrhosis in glycogen storage disease Ib.

artículo científico publicado en 2013

Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection

artículo científico publicado en 2011

Long-term follow-up of 114 patients with congenital hyperinsulinism

artículo científico publicado en 2003

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

artículo científico publicado en 2015

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

artículo científico publicado en 2014

Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature.

scientific article published on 27 January 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

NMDAR antagonists for the treatment of diabetes mellitus-Current status and future directions.

artículo científico publicado en 2017

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.

artículo científico publicado en 2011

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

artículo científico publicado en 2002

Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality ⬇️

artículo científico publicado el 31 de marzo de 2012

Odd-numbered long-chain fatty acids in erythrocyte phospholipids as long-term follow-up parameter in propionic acidemia

artículo científico publicado en 2004

Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells

artículo científico publicado en 2007

Osmotic regulation of hepatic betaine metabolism

artículo científico publicado en 2013

Palivizumab-resistant human respiratory syncytial virus infection in infancy

artículo científico publicado en 2010

Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation

artículo científico publicado en 2017

Peripherally active dextromethorphan derivatives lower blood glucose levels by targeting pancreatic islets

artículo científico publicado en 2021

Persistent right umbilical vein associated with complex congenital cardiac malformation

scientific article published on 29 March 2006

Pott's puffy tumor: a forgotten differential diagnosis of frontal swelling of the forehead

artículo científico publicado en 2012

Probable idiopathic intracranial hypertension in pre-pubertal children

scientific article published on 01 April 2008

Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany

artículo científico publicado en 2005

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

Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations

artículo científico publicado en 2015

Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis

artículo científico publicado en 2009

Screening for non-alcoholic fatty liver disease in children and adolescents with type 1 diabetes mellitus: a cross-sectional analysis

artículo científico publicado en 2017

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology

artículo científico publicado en 2007

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation

scientific article published on 01 December 2005

Situation of adult patients with inborn errors of metabolism. A survey in Germany

artículo científico publicado en 2005

Spectrophotometric Microassay for δ-Aminolevulinate Dehydratase in Dried-Blood Spots as Confirmation for Hereditary Tyrosinemia Type I ⬇️

artículo científico publicado en 2001

Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis

artículo científico publicado en 2008

Subdural hematoma as clinical presentation of osteogenesis imperfecta

artículo científico publicado en 2005

TGR5 is essential for bile acid-dependent cholangiocyte proliferation in vivo and in vitro

artículo científico publicado en 2015

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

artículo científico publicado en 2013

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

artículo científico publicado en 2002

Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations

artículo científico publicado en 2010

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice

artículo científico publicado en 2005

Transient ischaemic attack in a 5-year-old girl due to focal vasculitis in neuroborreliosis

artículo científico publicado en 2013

Transplanted human pluripotent stem cell-derived mesenchymal stem cells support liver regeneration in Gunn rats

artículo científico publicado en 2018

Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

artículo científico publicado en 2017

Update on mitochondrial fatty acid oxidation disorders ⬇️

artículo científico publicado el 1 de octubre de 2010

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome

artículo científico publicado en 2004

Urinary excretion of the nitrotyrosine metabolite 3-nitro-4-hydroxyphenylacetic acid in preterm and term infants

artículo científico publicado en 2007

Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin

artículo científico publicado en 2009

What We Have Learned from the Influenza A pH1N1 2009/10 Pandemic: High Clinical Impact of Human Metapneumovirus and Respiratory Syncytial Virus in Hospitalized Pediatric Patients.

artículo científico publicado en 2015

iRhom2 inhibits bile duct obstruction-induced liver fibrosis

scientific article published on 29 October 2019

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