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Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

• Authors : Ghazale Mahjoub; Parham Habibzadeh; Hassan Dastsooz

Subjects: Mitochondrial DNA depletion syndrome; DGUOK; MPV17

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

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Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

• Authors : Abdulaziz AlSaman; Hoda Tomoum; Federica Invernizzi

Subjects: Case report; mitochondrial depletion; mitochondrial

• Source: The Saudi Journal of Gastroenterology, Vol 18, Iss 4, Pp 285-289 (2012)

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Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 G.

• Authors : AlSaman, Abdulaziz¹ ; Tomoum, Hoda¹; Invernizzi, Federica²

Subjects: *BLOOD testing; *ECHOCARDIOGRAPHY; *MAGNETIC resonance imaging

• Source: Saudi Journal of Gastroenterology. Jul/Aug2012, Vol. 18 Issue 4, p285-289. 5p. 1 Color Photograph, 1 Black and White Photograph.

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Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: A case series

• Authors : Mahjoub G.; Habibzadeh P.; Dastsooz H. ...

Subjects: DGUOK; Mitochondrial disorder; Mitochondrial DNA depletion syndrome

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Canine MPV17 truncation without clinical manifestations

• Authors : Hanninen, Reetta L.; Ahonen, Saija; Marquez, Merce ...

Subjects: Dog; mtDNA; MPV17

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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

• Authors : Uusimaa, Johanna; Evans, Julie; Smith, Conrad

Subjects: MPV17; mitochondrial DNA depletion; hepatocerebral disease

• Source: Uusimaa , J , Evans , J , Smith , C , Butterworth , A , Craig , K , Ashley , N , Liao , C , Carver , J , Diot , A , Macleod , L , Hargreaves , I , Al-Hussaini , A , Faqeih , E , Asery , A , Al Balwi ,

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Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

• Authors : Mahjoub, Ghazale; Habibzadeh, Parham; Dastsooz, Hassan

Subjects: RECESSIVE genes; MITOCHONDRIAL proteins; FRAMESHIFT mutation

• Source: BMC Medical Genetics; 10/29/2019, Vol. 20 Issue 1, pN.PAG-N.PAG, 1p

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A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.

• Authors : di Punzio, Giulia¹ (AUTHOR) ; Gilberti, Micol¹ (AUTHOR); Baruffini, Enrico¹ (AUTHOR)

Subjects: *MITOCHONDRIAL DNA; *DNA synthesis; *MOLECULES

• Source: International Journal of Molecular Sciences. Nov2021, Vol. 22 Issue 22, p12223. 1p.

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A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool

• Authors : Giulia di Punzio; Micol Gilberti; Enrico Baruffini

Subjects: yeast; mitochondrial DNA depletion syndromes (MDS); drug repurposingagris

• Source: International Journal of Molecular Sciences; Volume 22; Issue 22; Pages: 12223

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Canine MPV17 truncation without clinical manifestations

• Authors : Reetta L. Hänninen; Saija Ahonen; Merce Màrquez

Subjects: Dog; mtDNA; MPV17

• Source: Biology Open, Vol 4, Iss 10, Pp 1253-1258 (2015)

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