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Create the page "PMM2 deficiency" on this wiki! See also the search results found.

• PMM2-CDG (CDG-Ia)
  ...er of glycosylation type 1a; Congenital disorder of glycosylation type Ia; PMM2-CDG More than 800 individuals with PMM2-CDG have been identified worldwide.
  6 KB (853 words) - 12:00, 25 September 2020
• Carbohydrate deficient glycoprotein syndrome
  ...l functioning of all cells in the body. CDG Syndrome is characterized by a deficiency in the production of these glycoproteins, leading to a wide range of sympto ...ost common type is CDG-Ia, also known as [[Phosphomannomutase 2 deficiency|PMM2-CDG]]. Other types include CDG-Ib, CDG-Ic, and CDG-Id, among others. Each t
  2 KB (332 words) - 15:07, 2 March 2024
• CDG syndrome type 1B
  ...Genetic testing can confirm a diagnosis by identifying mutations in the ''PMM2'' gene, which is responsible for CDG-1B. ...cosylation of proteins and lipids. Mutations in the ''MPI'' gene lead to a deficiency of functional mannose phosphate isomerase, disrupting the glycosylation pro
  3 KB (385 words) - 14:43, 30 March 2024
• Genetic diseases-J
  ...ttps://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation PMM2-congenital disorder of glycosylation]''' ...ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency Multiple sulfatase deficiency]'''
  9 KB (1,179 words) - 20:58, 18 March 2024
• Digestive diseases
  * '''[[Alpha-1 antitrypsin deficiency]]''' * '''[[Congenital lactase deficiency]]'''
  10 KB (1,277 words) - 15:03, 21 June 2020
• List of rare connective tissue diseases
  * '''[[Alpha-1 antitrypsin deficiency]]''' * '''[[Congenital lactase deficiency]]'''
  10 KB (1,284 words) - 22:21, 18 September 2019
• List of rare digestive diseases
  * '''[[Alpha-1 antitrypsin deficiency]]''' * '''[[Congenital lactase deficiency]]'''
  10 KB (1,283 words) - 22:23, 18 September 2019
• List of rare metabolic disorders
  * '''[[17-alpha-hydroxylase deficiency]]''' * '''[[17-beta hydroxysteroid dehydrogenase 3 deficiency]]'''
  22 KB (2,804 words) - 22:50, 18 September 2019
• Genetic diseases-P
  ...ylase-deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency]''' * '''[[PAH deficiency]]''' see '''[https://ghr.nlm.nih.gov/condition/phenylketonuria Phenylketon
  79 KB (9,842 words) - 20:59, 18 March 2024
• Metabolic disorders
  ...ficiencies or other dysfunctions. These disorders can lead to a surplus or deficiency of specific substances within the body, often with significant clinical con ** [[Lipoprotein lipase deficiency]]
  26 KB (3,173 words) - 19:37, 20 September 2023
• Genetic diseases-C
  * '''[[C1 esterase inhibitor deficiency]]''' see '''[https://ghr.nlm.nih.gov/condition/hereditary-angioedema Hered * '''[[C1 inhibitor deficiency]]''' see '''[https://ghr.nlm.nih.gov/condition/hereditary-angioedema Hered
  114 KB (14,485 words) - 20:56, 18 March 2024
• List of rare skin diseases
  * '''[[Aminolevulinate dehydratase deficiency porphyria]]''' * '''[[Biotinidase deficiency]]'''
  26 KB (3,281 words) - 22:40, 18 September 2019
• Skin diseases
  * '''[[Aminolevulinate dehydratase deficiency porphyria]]''' * '''[[Biotinidase deficiency]]'''
  26 KB (3,264 words) - 07:04, 23 June 2020
• List of rare nervous system diseases
  * '''[[2-methylbutyryl-CoA dehydrogenase deficiency]]''' * '''[[3-alpha hydroxyacyl-CoA dehydrogenase deficiency]]'''
  59 KB (7,384 words) - 08:53, 14 March 2024
• List of rare diseases-P
  * '''[[P450c11b1 deficiency]]''' * '''[[PAI1 deficiency]]'''
  76 KB (9,827 words) - 03:35, 10 April 2022
• Diseases-and-disorders-P
  * '''[[PGM3 deficiency]]''' * '''[[PMM2 deficiency]]'''
  36 KB (4,600 words) - 23:09, 14 November 2020
• List of diseases
  * [[3-Hydroxyisobutyryl-CoA deacylase deficiency]] * [[Acyl-CoA oxidase deficiency]]
  51 KB (4,672 words) - 11:42, 19 February 2024
• Lists of diseases
  * [[3-Hydroxyisobutyryl-CoA deacylase deficiency]] * [[Acyl-CoA oxidase deficiency]]
  59 KB (5,384 words) - 19:07, 1 March 2024
• Congenital and genetic diseases
  * '''[[11-beta-hydroxylase deficiency]]''' * '''[[17-alpha-hydroxylase deficiency]]'''
  138 KB (16,857 words) - 05:28, 19 March 2024
• List of rare congenital and genetic diseases
  * '''[[11-beta-hydroxylase deficiency]]''' * '''[[17-alpha-hydroxylase deficiency]]'''
  137 KB (17,056 words) - 17:46, 19 March 2024

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