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Lysinuric protein intolerance

Lysinuric protein intolerance is an autosomal recessive disease characterized by hyperamonemia after protein ingestion and hyperbasic aminoaciduria.

Epidemiology

The incidence in Finland is 1:60,000 but varies considerably within the country.[Error: Macro 'ref' doesn't exist]

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Yamada M et al. (2000) Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.

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2.

None (1959) Methodology in human genetics.

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3.

GELZER J et al. (1961) [Wiskott-Aldrich syndrome].

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4.

VAN DEN BOSCH J et al. (1964) [THE ALDRICH SYNDROME; A CLINICAL AND GENETIC STUDY OF SEVERAL DUTCH FAMILIES].

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5.

Puck JM et al. (2006) Lessons from the Wiskott-Aldrich syndrome.

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6.

Boztug K et al. (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

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7.

Waikhom R et al. (2012) Non-IgA mesangioproliferative glomerulonephritis: a benign entity?

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8.

Axelsen M et al. (2014) Mesangioproliferative glomerulonephritis: a 30-year prognosis study.

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9.

OMIM.ORG article

Omim 604210 external link
10.

Orphanet article

Orphanet ID 120803 external link
11.

Wikipedia article

Wikipedia EN (CRB1) external link
Update: Aug. 14, 2020
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