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Glycogen storage disease 1

Glycogen storage disease 1 is an autosomal recessive disorder caused by mutations of the SLC37A4 or G6PC gene. It manifests in liver and kidney. The renal disease includes most commonly glomerulosclerosis. A renotubular Fanconi syndrome is also observed in some cases.

Systematic

Metabolic disturbances of proximal tubular function
Cystinosis
Dent disease
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Fructose intolerance
Galactosemia
Glycogen storage disease 1
Glycogen storage disease 1A
G6PC
Glycogen storage disease 1B
SLC37A4
Glycogen storage disease 1C
SLC37A4
Hepatorenal tyrosinemia
Lowe disease
MELAS syndrome
Wilson disease

References:

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None () ////

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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OMIM.ORG article

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Update: Aug. 14, 2020
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