.tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="a0b88c1a58e4bf9c5b38f6a068e39cfd"] { padding: 0px;margin: 0px 0px 20px 0px; } .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(3n + 3) { grid-column: 3 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.3333fr) minmax(0, 0.3333fr) minmax(0, 0.3333fr);grid-column-gap: 10px;grid-row-gap: 10px;grid-auto-flow: row }  .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { border-radius: 16px 16px 0 0;background: rgba( 27, 95, 193, 1 );padding: 20px 10px 5px 10px;margin-top: 0px;margin-bottom: 0px;box-shadow: 0 10px 100px 0 rgba( 27, 95, 193, 0.16 ); } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );text-align: center;padding: 0px;margin: 10px 0px 10px 0px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 28px;line-height: 1.3em;color: rgba( 255, 255, 255, 1 );padding-top: 0px;padding-right: 0px;padding-bottom: 0px;margin: 10px 0px 10px 0px; }  @media only screen and (max-width: 781px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto}.tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] > .tb-grid-column:nth-of-type(2n + 2) { grid-column: 2 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 0.5fr) minmax(0, 0.5fr);grid-column-gap: 15px;grid-row-gap: 15px;grid-auto-flow: row }  .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { background: rgba( 27, 95, 193, 1 );padding: 10px;margin-top: 0px; } h1.tb-heading[data-toolset-blocks-heading="fe1811b807c5f987fcf2e200c76e4c92"]  { font-size: 23px; }  .tb-field[data-toolset-blocks-field="c3fedb55ea883b38e9445e62212d3a03"] { font-size: 23px; }   } @media only screen and (max-width: 599px) { .tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end}.tb-container .tb-container-inner{width:100%;margin:0 auto}.tb-grid,.tb-grid>.block-editor-inner-blocks>.block-editor-block-list__layout{display:grid;grid-row-gap:25px;grid-column-gap:25px}.tb-grid-item{background:#d38a03;padding:30px}.tb-grid-column{flex-wrap:wrap}.tb-grid-column>*{width:100%}.tb-grid-column.tb-grid-align-top{width:100%;display:flex;align-content:flex-start}.tb-grid-column.tb-grid-align-center{width:100%;display:flex;align-content:center}.tb-grid-column.tb-grid-align-bottom{width:100%;display:flex;align-content:flex-end} .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"]  > .tb-grid-column:nth-of-type(1n+1) { grid-column: 1 } .wpv-view-output[data-toolset-views-view-editor="760d9484e1503fbde5b9cb69128f8562"] .js-wpv-loop-wrapper > .tb-grid { grid-template-columns: minmax(0, 1fr);grid-auto-flow: row }  .tb-container .tb-container-inner{width:100%;margin:0 auto} .wp-block-toolset-blocks-container.tb-container[data-toolset-blocks-container="ac377d85022631d6f589c9a12c381535"] { padding: 10px 15px 10px 15px;margin-top: 0px; }    } 
LnRiLWhlYWRpbmcuaGFzLWJhY2tncm91bmR7cGFkZGluZzowfQ==
LnRiLWZpZWxke21hcmdpbi1ib3R0b206MC43NmVtfS50Yi1maWVsZC0tbGVmdHt0ZXh0LWFsaWduOmxlZnR9LnRiLWZpZWxkLS1jZW50ZXJ7dGV4dC1hbGlnbjpjZW50ZXJ9LnRiLWZpZWxkLS1yaWdodHt0ZXh0LWFsaWduOnJpZ2h0fS50Yi1maWVsZF9fc2t5cGVfcHJldmlld3twYWRkaW5nOjEwcHggMjBweDtib3JkZXItcmFkaXVzOjNweDtjb2xvcjojZmZmO2JhY2tncm91bmQ6IzAwYWZlZTtkaXNwbGF5OmlubGluZS1ibG9ja311bC5nbGlkZV9fc2xpZGVze21hcmdpbjowfQ==
1.9.a
Disorders of mitochondrial nucleotide pool maintenance
- Mitochondrial deoxyguanosine kinase deficiency (Mitochondrial DNA depletion syndrome type 3; arPEO with mitochondrial DNA deletions type 4; noncirrhotic portal hypertension)
- Mitochondrial thymidine kinase deficiency (Mitochondrial DNA depletion syndrome type 2)
- Mitochondrial UMP-CMP kinase 2 deficiency
- MPV17 deficiency (Mitochondrial DNA depletion syndrome type 6)
- Mitochondrial ribonucleotide reductase small subunit deficiency (Mitochondrial DNA depletion syndrome type 8; adPEO with mitochondrial DNA deletions type 5)
- Thymidine phosphorylase deficiency (Mitochondrial neurogastrointestinal encephalopathy syndrome)
- SAMHD1 deficiency (Aicardi-Goutières syndrome type 5; stenosis, aneurysm, moyamoya and stroke – SAMS association)
