Primary hyperoxalurias: diagnosis and treatment.

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Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren.Folding Defects Leading to Primary Hyperoxaluria.

P2860

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P2860

Primary hyperoxalurias: diagnosis and treatment.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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@zh-my

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name

Primary hyperoxalurias: diagnosis and treatment.

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Primary hyperoxalurias: diagnosis and treatment.

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Primary hyperoxalurias: diagnosis and treatment.

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P1476

Primary hyperoxalurias: diagnosis and treatment.

@en

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Efrat Ben-Shalom

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Yaacov Frishberg

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P2860

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis

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

Primary hyperoxalurias: disorders of glyoxylate detoxification

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

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s00467-014-3030-1

P304

1781-1791

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scholarly article

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10.1007/S00467-014-3030-1

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P433

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P478

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2014-12-18T00:00:00Z

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P6179

1044794688

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P698

25519509

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Primary hyperoxalurias: diagnosis and treatment.

about

P2860

P2860

Primary hyperoxalurias: diagnosis and treatment.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P6179

P698