Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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type

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Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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prefLabel

Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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P1476

Prevalence of Monogenic Causes ...... olithiasis or Nephrocalcinosis

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P2093

Brittany Fisher

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Danko Milosevic

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Deborah Stein

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Friedhelm Hildebrandt

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Jan Halbritter

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Jennifer Ashley Lawson

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Leslie Spaneas

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Michael A Ferguson

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Michelle Baum

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Shirlee Shril

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P2860

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Molecular identification of a renal urate anion exchanger that regulates blood urate levels

NHERF1 mutations and responsiveness of renal parathyroid hormone

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation

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664-672

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scholarly article

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10.2215/CJN.07540715

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2016-01-19T00:00:00Z

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26787776

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4822665

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