11 Matching Annotations
  1. Dec 2022
  2. 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
      OMIM 612718

      Case#: pt I, 21 y/o male

      DiseaseAssertion: GAMT deficiency

      FamilyInfo:non-consangeous parents of Yemenite Jewish descent

      CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function

      CaseHPOFreeText: N/A

      CaseNotHPOs:N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: abnormal CK and EMG results

      Brain Magnetic Resonance Spectroscopy (MRS): appeared normal

      GAMT activity assay: N/A

      Zygosity: autosomal recessive

      Variant 1: OMIM 612718

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
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    sciencedirect.com/science/article/abs/pii/S1096719210002568
  3. academic.oup.com academic.oup.com
    l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
    3
    1. DrewSturgill 10 Dec 2022
      OMIM 300352)

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    2. DrewSturgill 10 Dec 2022
      OMIM 601240

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
    3. DrewSturgill 10 Dec 2022
      OMIM 602360

      Case#: N/A

      DiseaseAssertion: AGAT mutation

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      Biochemical analyte testing: N/A

      Brain Magnetic Resonance Spectroscopy (MRS): N/A

      GAMT activity assay: N/A

      Zygosity: homozygous

      Variant 1: OMIM 602360

      ClinVarID: 8303

      CAID: CA340769

      gnomAD: N/A

      Gene:GAMT disease entity: GAMT deficiency clinvarID: 8303 CAID: CA340769
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    academic.oup.com/hmg/article/22/1/110/616255
  4. Aug 2021
  5. psyarxiv.com psyarxiv.com
    AN EVALUATION OF NIGERIAN CHORISTERS’ LEVERAGE ON TECHNOLOGY IN THE FACE OF COVID-19 PANDEMIC
    1
    1. zoe_ikeotuonye 07 Aug 2021

      Nweke (Ph.D.), F. E. (2021). AN EVALUATION OF NIGERIAN CHORISTERS’ LEVERAGE ON TECHNOLOGY IN THE FACE OF COVID-19 PANDEMIC. PsyArXiv. https://doi.org/10.31234/osf.io/67zuk

      is:preprint lang:en COVID-19 pandemic music social science behavioural science environmental psychology technology infrastructural deficiency bane church choristers
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    psyarxiv.com/67zuk/
  6. Sep 2020
  7. github.com github.com
    sveltejs/rfcs
    1
    1. TylerRick 17 Sep 2020
      But this is a case where it feels like we're papering over a deficiency in our language, and is the sort of thing detractors might well point to and say 'ha! see?'.
      detractors detractors may point out this deficiency deficiency can we do even better?
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    github.com/sveltejs/rfcs/blob/markup-constants/text/0000-markup-constants.md
  8. May 2020
  9. blogs.lse.ac.uk blogs.lse.ac.uk
    The Coronavirus (COVID-19) outbreak highlights serious deficiencies in scholarly communication
    1
    1. Marlene_Wulf 07 May 2020

      The Coronavirus (COVID-19) outbreak highlights serious deficiencies in scholarly communication. (2020, March 5). Impact of Social Sciences. https://blogs.lse.ac.uk/impactofsocialsciences/2020/03/05/the-coronavirus-covid-19-outbreak-highlights-serious-deficiencies-in-scholarly-communication/

      lang:en COVID-19 deficiency scholarly communication research government response system public good open research norm rapid response is:article
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    blogs.lse.ac.uk/impactofsocialsciences/2020/03/05/the-coronavirus-covid-19-outbreak-highlights-serious-deficiencies-in-scholarly-communication/
  10. twitter.com twitter.com
    Mathias Bynens en Twitter: "New accessibility feature in @ChromeDevTools: simulate vision deficiencies, including blurred vision & various types of color blindness. 🔥 Find out how people with vision deficiencies experience your web app, and resolve contrast issues you didn’t even know you had! https://t.co/QKLQmEhhMM" / Twitter
    1
    1. Marlene_Wulf 07 May 2020

      Mathias Bynens en Twitter: “New accessibility feature in @ChromeDevTools: simulate vision deficiencies, including blurred vision & various types of color blindness. 🔥 Find out how people with vision deficiencies experience your web app, and resolve contrast issues you didn’t even know you had! https://t.co/QKLQmEhhMM” / Twitter. (n.d.). Twitter. Retrieved April 28, 2020, from https://twitter.com/mathias/status/1237393102635012101

      is:twitter lang:en Chrome tool Google simulation vision deficiency color blindness contrast issue
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    twitter.com/mathias/status/1237393102635012101
  11. Mar 2018
  12. www.ddponline.org www.ddponline.org
    Microsoft PowerPoint - ames.ppt
    1
    1. Perig 31 Mar 2018
      Micronutrient Undernutrition in Americans
      carence deficiency nutrient
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    ddponline.org/ppt/06ames.pdf
  13. May 2017
  14. www.spectracell.com www.spectracell.com
    SpectraCell Laboratories | MNT
    1
    1. KristinaFitz 04 May 2017
      SpectraCell's Micronutrient test includes: Vitamins Vitamin A Vitamin B1 Vitamin B2 Vitamin B3 Vitamin B6 Vitamin B12 Biotin Folate Pantothenate Vitamin C Vitamin D Vitamin K Minerals Calcium Magnesium Manganese Zinc Copper Amino Acids Asparagine Glutamine Serine Fatty Acids Oleic Acid Antioxidants Alpha Lipoic Acid Coenzyme Q10 Cysteine Glutathione Selenium Vitamin E Carbohydrate Metabolism Chromium Fructose Sensitivity Glucose-Insulin Metabolism Metabolites Choline Inositol Carnitine SPECTROX™ for Total Antioxidant Function IMMUNIDEX™ Immune Response Score

      Ask doctor for this test

      nutrient deficiency test
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    spectracell.com/clinicians/products/mnt/
  15. Feb 2017
  16. en.wikipedia.org en.wikipedia.org
    Sho (board game) - Wikipedia
    1
    1. kavinkamaraj 18 Feb 2017
      simply

      fdf

      Da Costa's syndrome ear and mastoid disease La Crosse encephalitis D-2-hydroxyglutaric aciduria Kallman's syndrome B cell linker protein deficiency
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    en.wikipedia.org/wiki/Sho_(board_game)