16 Matching Annotations
  1. Oct 2024
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00018-0017.pdf
    1
    1. annaheckler 22 Oct 2024
      Guanidinoacetate Methyltransferase Deficiency: The First InbornError of Creatine Metabolism in Man

      PMID: 8651275

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive

      General Gene:GAMT HGNC:4136
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    pmc.ncbi.nlm.nih.gov/articles/instance/1914613/pdf/ajhg00018-0017.pdf
  3. Dec 2022
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
    1
    1. DrewSturgill 10 Dec 2022
      Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment

      PMID: 12597058

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance:Autosomal Recessive

      General: Insufficient evidenceGene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12597058/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical and clinical characteristics of creatine deficiency syndromes
    1
    1. DrewSturgill 10 Dec 2022
      Biochemical and clinical characteristics of creatine deficiency syndromes

      PMID: 15625559

      Gene:GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/15625559/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
    1
    1. DrewSturgill 10 Dec 2022
      Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

      PMID: 12709373

      Gene: GAMT

      Disease:GAMT deficiency

      Inheritance: Autosomal Recessive

      General, Gene:GAMT, HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12709373/
  7. www.sciencedirect.com www.sciencedirect.com
    l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
    1
    1. DrewSturgill 10 Dec 2022
      l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

      PMID: 20682460 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    sciencedirect.com/science/article/abs/pii/S1096719210002568
  8. Nov 2022
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
    1. DrewSturgill 01 Nov 2022
      Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

      PMID: 12889668<br /> Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: No evidence as far as I can see due to no open access Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/12889668/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice
    1
    1. DrewSturgill 01 Nov 2022
      Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice

      PMID: 32172372 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: No evidence Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/32172372/
  11. www.sciencedirect.com www.sciencedirect.com
    LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
    1
    1. DrewSturgill 01 Nov 2022
      LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step

      PMID: 30858092 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      Gene:GAMT General: No evidence HGNC:4136
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    sciencedirect.com/science/article/pii/S0009898119301123
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
    1
    1. DrewSturgill 01 Nov 2022
      Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency

      PMID: 28971744 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      Gene:GAMT General: No evidence as far as I can see due to no open access HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/28971744/
  13. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    1
    1. DrewSturgill 01 Nov 2022
      l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

      PMID: 23026748 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General: Insufficient evidence Gene:GAMT HGNC:4136
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    academic.oup.com/hmg/article/22/1/110/616255
  14. www.pedneur.com www.pedneur.com
    Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
    1
    1. Cort1676 01 Nov 2022
      Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate

      PMID: 24766785

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: X-linked

      General Gene:GAMT HGNC:4136
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    pedneur.com/article/S0887-8994(14)00139-8/fulltext
  15. Oct 2022
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Clinical characteristics and diagnostic clues in inborn errors of creatine metabolismClinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    1
    1. felicity_jg 26 Oct 2022
      Clinical characteristics and diagnostic cluesin inborn errors of creatine metabolism

      Title annotation

      PMID: 12889668

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive NO EVIDENCE

      General, Gene:GAMT, HGNC:4136
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    onlinelibrary.wiley.com/doi/pdfdirect/10.1023/A:1024453704800
  17. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Adult GAMT deficiency: A literature review and report of two siblings
    1
    1. pstclair 23 Oct 2022
      Adult GAMT deficiency: A literature review and report of two siblings

      PMID: 33996490

      Gene: GAMT

      Disease: GAMT deficiency

      Inheritance: Autosomal Recessive

      General Gene:GAMT HGNC:4136
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    ncbi.nlm.nih.gov/pmc/articles/PMC8093930/
  18. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pre-symptomatic treatment of creatine biosynthesis defects
    1
    1. ThompsonA 12 Oct 2022
      Pre-symptomatic treatment of creatine biosynthesis defects

      PMID: 18652077 Gene: GAMT Disease:GAMT deficiency Inheritance:Autosomal Recessive

      Not accessible

      General Gene:GAMT HGNC:4136
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    pubmed.ncbi.nlm.nih.gov/18652077/
  19. bmcpregnancychildbirth.biomedcentral.com bmcpregnancychildbirth.biomedcentral.com
    Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
    1
    1. DrewSturgill 11 Oct 2022
      Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

      PMID: 32883247 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03192-4
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Guanidinoacetic acid deficiency: a new entity in clinical medicine?
    1
    1. DrewSturgill 11 Oct 2022
      Guanidinoacetic acid deficiency: a new entity in clinical medicine?

      PMID: 33029096 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked

      General, Gene:GAMT, HGNC:4136
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    ncbi.nlm.nih.gov/pmc/articles/PMC7532483/