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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Ауру
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

ORPHA:79258Клин. под.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

ORPHA:79259Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Ауру
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

ORPHA:308712Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

ORPHA:308684Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

ORPHA:308698Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

ORPHA:308670Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

ORPHA:308655Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

ORPHA:308638Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

ORPHA:308621Клин. под.
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Ауру
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Ауру
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Клин. под.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Клин. под.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Ауру

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Ауру
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Ауру
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Ауру
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Ауру
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Ауру
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Ауру
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Ауру
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Ауру
Autosomal recessive, X-linked recessive