Disease: Distal primary acidosis- familial
- Aetiological, clinical and metabolic profile of hypokalaemic periodic paralysis in adults: a single-centre experience
- Association of Familial Hyperkalemia and Hypertension (FHHt) with proximal renal tubular acidosis and epileptic seizures
- Association of Familial Hyperkalemia and Hypertension with Proximal Renal Tubular Acidosis and Epileptic Seizures
- Atypical presentation of distal renal tubular acidosis in two siblings
- Audiometric and imaging characteristics of distal renal tubular acidosis and deafness
- Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO(2) test be normal?
- Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO<sub>2</sub> test be normal?
- Clinical and biochemical spectrum of hypokalemic paralysis in North: East India
- Clinical and genetic analysis of a patient with primary distal renal tubular acidosis due to variants of ATP6V0A4 gene
- Clinical and laboratory approaches in the diagnosis of renal tubular acidosis
- Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene
- Coexistence of nephrocalcinosis and renal failure in children--own experiences
- Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia
- Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis
- Diagnosis of hypokalemia: a problem-solving approach to clinical cases
- Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter
- Disorders of distal nephron function
- Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
- Distal Renal Tubular Acidosis: Clinical Variability in the Same Family
- Electrocardiographic manifestations in patients with thyrotoxic periodic paralysis
- Epidemiological profile, mineral metabolic pattern and crystallographic analysis of urolithiasis in Kuwait
- Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
- Etiological Profile of Nephrocalcinosis in Children from Southern India
- Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis
- Genetic and biochemical features of the monogenic hereditary urolithiasis
- Genetic defects underlying renal stone disease
- Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort
- Hearing impairment in association with distal renal tubular acidosis among Saudi children
- Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis
- Hereditary diseases causing kidney calculi
- Hypercalciuria
- Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances
- Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms
- Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing
- Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
- Molecular physiology and genetics of Na+-independent SLC4 anion exchangers
- Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis
- Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis
- Nephrocalcinosis as a clinical syndrome. Study of 77 cases (author's transl)
- Nephrocalcinosis in children
- Organic acid disorders
- Osteopenia and renal calcification in a 4.5 year old child with primary distal renal tubular acidosis treated for idiopathic renal hypercalciuria
- Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria
- Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families
- Primary distal tubular acidosis in childhood: clinical study and long-term follow-up of 28 patients
- Primary periodic paralyses
- Primary Sjogren's syndrome presenting as hypokalaemic periodic paralysis and respiratory arrest
- Progressive chronic kidney disease secondary to tubulointerstitial nephritis in primary biliary cirrhosis
- Recurrent Hypokalemia leading to Flaccid Quadriparesis: A Renal or Connective Tissue Disorder
- Renal tubular acidosis
- Renal tubular acidosis and perception deafness. Apropos of a familial form
- RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies
- Report of a family with two different hereditary diseases leading to early nephrocalcinosis
- Research progress on renal calculus associate with inborn error of metabolism
- Sporadic distal renal tubular acidosis and periodic hypokalaemic paralysis in Kashmir
- The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred
- The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases