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List of works by Ertan Mayatepek

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

scientific article published on 10 August 2021

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

scientific article published on 12 June 2013

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 ⬇️

scientific article published on 01 January 2011

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

scientific article

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

scientific article published on 22 December 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

scientific article published in September 2003

Acute purulent pericarditis in pneumococcal meningitis

scientific article published on 24 June 2005

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

scientific article published in November 2002

Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse

scientific article published in January 2013

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

scientific article

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

scientific article published on January 2012

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

scientific article

Aspects of Newborn Screening in Isovaleric Acidemia

scientific article published on 29 January 2018

Beta-ureidopropionase deficiency presenting with febrile status epilepticus

scientific article published in January 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

scientific article published on 01 December 2019

Biallelic mutations in cause developmental and epileptic encephalopathy

Bile Acid-Induced Suicidal Erythrocyte Death.

scientific article

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

scientific article

Blue Diaper Syndrome and PCSK1 Mutations

scientific article published in April 2018

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

scientific article published on June 1, 2012

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

scientific article published in August 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

scientific article published on 06 October 2010

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

scientific article

Clinical and genetic heterogeneity in congenital hyperinsulinism

scientific article

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

scientific article published in December 2002

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

scientific article published on 13 June 2020

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

scientific article published on 14 March 2008

Conjugated bilirubin triggers anemia by inducing erythrocyte death

scientific article

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

scientific article published on 18 December 2015

Crossed Cerebellar Diaschisis after Status Epilepticus in a Young Child ⬇️

scientific article published on April 3, 2012

Cystic renal dysplasia as a leading sign of inherited metabolic disease

scientific article published on 19 July 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

scientific article published on 6 April 2006

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

scientific article

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

scientific article published on November 11, 2011

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

scientific article published on March 2002

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

scientific article

Fabry disease-often seen, rarely diagnosed

scientific article published on 26 June 2009

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

scientific article published on 29 August 2006

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

scientific article published on 21 February 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

scientific article

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

scientific article published on January 2013

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

scientific article

Hunter disease before and during enzyme replacement therapy

scientific article published on 01 September 2011

Hypertrichosis in presymptomatic mitochondrial disease

scientific article published on 14 February 2013

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

scientific article published on 24 August 2020

Inborn errors of carbohydrate metabolism

scientific article published on October 2010

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

scientific article

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

scientific article published on November 10, 2010

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

scientific article published on 15 May 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.

scientific article

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

scientific article

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

scientific article

Liver cirrhosis in glycogen storage disease Ib.

scientific article published on 11 January 2013

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

scientific article published in February 2011

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

scientific article

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

scientific article

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

scientific article published on 20 September 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

scientific article published on 12 September 2003

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

scientific article published in July 2002

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

scientific article published in September 2017

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

scientific article published on 9 November 2011

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

scientific article

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 ⬇️

scientific article published on March 31, 2012

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

scientific article published on 01 January 2004

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

scientific article published on 11 January 2007

Osmotic regulation of hepatic betaine metabolism

scientific article published on 28 February 2013

Palivizumab-resistant human respiratory syncytial virus infection in infancy

scientific article published in July 2010

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

scientific article

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

scientific article published in 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

scientific article published on October 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

scientific article published on 01 January 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

scientific article published on 23 September 2005

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

scientific article published on 18 November 2015

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

scientific article published in February 2009

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

scientific article published on 17 February 2017

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

scientific article published on 01 December 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

scientific article published in October 2005

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

scholarly article

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

scientific article

Subdural hematoma as clinical presentation of osteogenesis imperfecta

scientific article published in February 2005

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

scientific article published on 29 September 2015

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency

scientific article

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

scientific article published in June 2002

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

scientific article published on September 2010

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

scientific article

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

scientific article published on 21 February 2013

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

scientific article published on 20 November 2018

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

scientific article published on 2 June 2017

Update on mitochondrial fatty acid oxidation disorders ⬇️

scientific article published on 01 October 2010

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

scientific article published in March 2004

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

scientific article published on 06 August 2007

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

scientific article published in November 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.

scientific article

iRhom2 inhibits bile duct obstruction-induced liver fibrosis

scientific article published on 29 October 2019

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