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Results 1 - 10 of 10 for In vivo
  1. GLUT1 deficiency syndrome 
    ... show signs and symptoms of the condition. De Vivo disease Encephalopathy due to GLUT1 deficiency G1D Glucose ... IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Glut1 Deficiency Syndrome (Glut1DS): State of the ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  2. Cherubism 
    ... Alagille-syndrome: Case Report With Literature Survey. In Vivo. 2021 May-Jun;35(3):1711-1736. doi: ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  3. Aromatic l-amino acid decarboxylase deficiency 
    ... PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  4. Hereditary sensory and autonomic neuropathy type V 
    ... factor in the development of myelinated nociceptors in vivo. Nature. 1991 Apr 11;350(6318):500-2. ...
    https://medlineplus.gov/...y-sensory-and-autonomic-neuropathy-type-v - Genetics
  5. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  6. Neutral lipid storage disease with myopathy 
    ... adipose triglyceride lipase deficiency in humans: an in vivo study in patients with neutral lipid storage disease ...
    https://medlineplus.gov/...utral-lipid-storage-disease-with-myopathy - Genetics
  7. FOXG1 syndrome 
    ... the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. Clin Genet. 2012 Oct; ...
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
  8. Autosomal dominant optic atrophy and cataract 
    ... Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies. In Vivo. 2017 Jul-Aug;31(4):511-525. doi: ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  9. Progressive external ophthalmoplegia 
    ... ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet. 2009 Jan ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  10. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S. Clinical spectrum of ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics