Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
about
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsInherited secondary nephrogenic diabetes insipidus: concentrating on humans.Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
P2860
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@en
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@nl
type
label
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@en
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@nl
prefLabel
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@en
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@nl
P2093
P2860
P356
P1433
P1476
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
@en
P2093
Abdulsalam Abu-Libdeh
Benjamin Dekel
Daniel Landau
Danny Lotan
Detlef Bockenhauer
Ishwar Verma
Naomi Pode-Shakked
Peter Svec
Sheela Nampoothiri
Yair Anikster
P2860
P356
10.1159/000329668
P50
P577
2011-08-18T00:00:00Z