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

L-arginine:glycine amidinotransferase deficiency
...rase deficiency; Creatine deficiency syndrome due to AGAT deficiency; GATM deficiency L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain.

5 KB (629 words) - 13:05, 26 December 2020
PGM1-CDG
...order of glycosylation; Glycogen storage disease due to phosphoglucomutase deficiency * Cerebral venous thrombosis(Blood clot in cerebral vein)

3 KB (441 words) - 11:07, 25 September 2020
Guanidinoacetate methyltransferase deficiency
| synonyms = '''GAMT deficiency''' | image = Creatine neutral.png

11 KB (1,386 words) - 15:00, 23 February 2024
List of rare diseases-X
* '''[[Xanthine dehydrogenase and aldehyde oxidase combined deficiency of]]''' * '''[[Xanthine dehydrogenase deficiency]]'''

11 KB (1,418 words) - 03:39, 10 April 2022
Carnitine palmitoyltransferase 2 deficiency
...ferase deficiency type 2; CPT2; Carnitine palmitoyltransferase II (CPT II) deficiency Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, p

6 KB (708 words) - 15:05, 27 April 2021
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
* Elevated serum [[creatine kinase]](Elevated blood creatine phosphokinase) * [[Intellectual disability]](Mental deficiency)

6 KB (671 words) - 13:13, 26 April 2021
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
* Elevated serum [[creatine kinase]](Elevated blood creatine phosphokinase) * Ubiquitin-positive cerebral inclusion bodies

5 KB (743 words) - 16:31, 1 February 2021
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
Congenital muscular dystrophy type 1A
...Muscular dystrophy, congenital, merosin-deficient; MDC1A; Laminin alpha-2 deficiency; LAMA2-related muscular dystrophy ...ons that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit.

7 KB (919 words) - 17:07, 16 March 2021
Genetic diseases-I
* '''[[I2S deficiency]]''' see '''[https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type- ...ition/isobutyryl-coa-dehydrogenase-deficiency Isobutyryl-CoA dehydrogenase deficiency]'''

32 KB (3,968 words) - 20:57, 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 radiological signs
* [[Acyl-CoA dehydrogenase, medium chain, deficiency of]] * [[Acyl-CoA dehydrogenase, short chain, deficiency of]]

25 KB (2,261 words) - 13:07, 20 January 2023
Wanted disease related articles
* [[Acyl-CoA dehydrogenase, medium chain, deficiency of]] * [[Acyl-CoA dehydrogenase, short chain, deficiency of]]

25 KB (2,276 words) - 13:59, 20 January 2023
List of diseases (C)
* C1 esterase deficiency ([[angioedema]]) * [[Carbamoyl phosphate synthetase deficiency]]

40 KB (3,786 words) - 04:19, 20 April 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-C
* '''[[C1q deficiency]]''' * '''[[C8 alpha-gamma deficiency]]'''

132 KB (17,206 words) - 03:10, 10 April 2022
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
Glossary of pathology terms
*'''[[anencephaly]]''' - markedly defective development of the brain, cerebral hemispheres absent or reduced to small masses, together with absence of the ...horylated creatine is an important storage form of high-energy phosphate = creatine phosphate or phosphocreatine. Energy source for muscle contraction.

45 KB (7,277 words) - 19:17, 15 July 2019