Lista de obras - Detlef Bockenhauer - Dominio Público Uruguay

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

artículo científico publicado en 2020

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

artículo científico publicado en 2013

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

artículo científico publicado en 2017

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

artículo científico publicado en 2011

Bartter and Gitelman syndromes: Questions of class

scientific article published on 29 October 2019

Child and Parental Perspectives on Communication and Decision Making in Pediatric CKD: A Focus Group Study

artículo científico publicado en 2018

Clinical and diagnostic features of Bartter and Gitelman syndromes.

artículo científico publicado en 2017

Clinical and molecular aspects of distal renal tubular acidosis in children.

artículo científico publicado en 2017

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

artículo científico publicado en 2019

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research

artículo científico publicado en 2013

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference

artículo científico publicado en 2014

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

artículo científico publicado en 2015

Diagnoses of uncertain significance: kidney genetics in the 21st century

scientific article published on 07 April 2020

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

artículo científico publicado en 2016

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings

artículo científico publicado en 2013

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

artículo científico publicado en 2016

GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis

scientific article published on 08 April 2019

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

artículo científico publicado en 2013

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

scientific article published on 01 July 2019

Genetic testing in renal disease ⬇️

artículo científico publicado el 27 de mayo de 2011

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

artículo científico publicado en 2018

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

scientific article published on 29 May 2019

Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics?

artículo científico publicado en 2017

Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study

artículo científico publicado en 2019

Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop

article by Allison Tong et al published December 2018 in Kidney International

Inherited Tubulopathies of the Kidney: Insights from Genetics

artículo científico publicado en 2020

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

artículo científico publicado en 2019

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

scientific journal article

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

artículo científico publicado en 2013

KCNJ10 mutations disrupt function in patients with EAST syndrome

scientific article published on 18 August 2011

Long-term outcome in inherited nephrogenic diabetes insipidus

artículo científico publicado en 2018

Mitochondrial DNA mutations in renal disease: an overview

artículo científico publicado en 2020

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

artículo científico publicado en 2004

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

artículo científico publicado en 2012

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

artículo científico publicado en 2013

Of dogs and men.

artículo científico publicado en 2017

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

artículo científico publicado en 2017

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.

artículo científico publicado en 2017

Renal Fanconi syndrome: taking a proximal look at the nephron

artículo científico publicado en 2014

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

artículo científico publicado en 2016

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

scientific journal article

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

artículo científico publicado en 2017

Standardised Outcomes in Nephrology-Children and Adolescents (SONG-Kids): a protocol for establishing a core outcome set for children with chronic kidney disease

scientific article published on 12 August 2016

Swimming with the fishes: delineating tubular transport pathways for magnesium

artículo científico publicado en 2019

The case | Renal tubular acidosis and eye findings

artículo científico publicado en 2014

The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome

artículo científico publicado en 2004

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

artículo científico publicado en 2011

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

artículo científico publicado en 2016

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant

scientific article published on 04 January 2017

Lista de obras de Detlef Bockenhauer

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Bartter and Gitelman syndromes: Questions of class

Child and Parental Perspectives on Communication and Decision Making in Pediatric CKD: A Focus Group Study

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Clinical and molecular aspects of distal renal tubular acidosis in children.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Diagnoses of uncertain significance: kidney genetics in the 21st century

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Genetic testing in renal disease ⬇️

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics?

Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique Study

Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop

Inherited Tubulopathies of the Kidney: Insights from Genetics

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

KCNJ10 mutations disrupt function in patients with EAST syndrome

Long-term outcome in inherited nephrogenic diabetes insipidus

Mitochondrial DNA mutations in renal disease: an overview

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Of dogs and men.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney Disease.

Renal Fanconi syndrome: taking a proximal look at the nephron

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV.

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

Standardised Outcomes in Nephrology-Children and Adolescents (SONG-Kids): a protocol for establishing a core outcome set for children with chronic kidney disease

Swimming with the fishes: delineating tubular transport pathways for magnesium

The case | Renal tubular acidosis and eye findings

The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant