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Academic Journal

The Parliamentary Inquiry into Mitochondrial Donation Law Reform (Maeve's Law) Bill 2021 in Australia: A Qualitative Analysis.

  • Authors : Allen JW; Monash University, Wellington Rd, Clayton, Australia.; Gyngell C

Subjects: Mitochondrial Diseases*; Humans ; Australia

  • Source: Journal of bioethical inquiry [J Bioeth Inq] 2024 Mar; Vol. 21 (1), pp. 67-80. Date of Electronic Publication: 2023 Aug 02.Publisher: Springer Country of Publication: Netherlands NLM ID: 101250741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.

  • Authors : Wu Y; Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.; Australian Genomics Health Alliance, Melbourne, VIC, Australia.

Subjects: Family* ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 May; Vol. 30 (5), pp. 577-586. Date of Electronic Publication: 2021 Jun 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

  • Authors : Davis RL; From the Department of Neurogenetics (R.L.D., K.R.K., C.L., K.E.A., F.E.-H., J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics; Adult

  • Source: Neurology [Neurology] 2022 Aug 16; Vol. 99 (7), pp. e730-e742. Date of Electronic Publication: 2022 May 31.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families.

  • Authors : Deverell M; Faculty of Medicine and Health, Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.; Australian Paediatric Surveillance Unit, Kids Research Institute, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

Subjects: Mitochondrial Diseases* ; Tuberous Sclerosis*; Australia

  • Source: Journal of paediatrics and child health [J Paediatr Child Health] 2022 Apr; Vol. 58 (4), pp. 611-617. Date of Electronic Publication: 2021 Oct 27.Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model:

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Academic Journal

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

  • Authors : Sue CM; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/therapy ; Standard of Care*

  • Source: Internal medicine journal [Intern Med J] 2022 Jan; Vol. 52 (1), pp. 110-120. Date of Electronic Publication: 2021 Nov 19.Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 101092952 Publication Model: Print-Electronic

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Academic Journal

Mitochondrial Replacement Therapy: In Whose Interests?

  • Authors : Noohi F; CENTRE OF GENOMICS AND POLICY, DEPARTMENT OF HUMAN GENETICS, McGILL UNIVERSITY, MONTREAL, QUEBEC, CANADA.; DEPARTMENT OF MEDICINE, UNIVERSITY OF CHICAGO, CHICAGO, UNITED STATES (CURRENT AFFILIATION).

Subjects: Mitochondrial Replacement Therapy* ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/prevention & control

  • Source: The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics [J Law Med Ethics] 2022; Vol. 50 (3), pp. 597-602.Publisher: Cambridge University Press Country of Publication: England NLM ID: 9315583 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Mitochondrial donation: is Australia ready?

  • Authors : Dziadek MA; Kolling Institute of Medical Research, Sydney, NSW.; Sue CM

Subjects: Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*prevention & control ; Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/*ethics ; Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/*legislation & jurisprudence

  • Source: The Medical journal of Australia [Med J Aust] 2022 Feb 21; Vol. 216 (3), pp. 118-121. Date of Electronic Publication: 2021 Oct 31.Publisher: Australasian Medical Publishing Co Country of Publication: Australia NLM ID: 0400714 Publication Model:

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Academic Journal

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis.

  • Authors : Long JC; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia. .; Best S

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/therapy ; Negotiating*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jul 13; Vol. 16 (1), pp. 310. Date of Electronic Publication: 2021 Jul 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

  • Authors : Riley LG; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, Australia. .; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia. .

Subjects: Genome, Mitochondrial*/Genome, Mitochondrial*/Genome, Mitochondrial*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1254-1261. Date of Electronic Publication: 2020 Apr 21.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

  • Authors : Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.

Subjects: Cardiomyopathies* ; Heart Failure* ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

  • Source: Med (New York, N.Y.) [Med] 2021 Jan 15; Vol. 2 (1), pp. 49-73. Date of Electronic Publication: 2020 Jul 09.Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  113 results for ""Mitochondrial Diseases""