PubMed for id: 414536

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37175952,37042760,36854702,36709920,36579437,33407696,33342467,32898648,32221390,32057119,31563034,31075182,30737079,30262252,30122451,29858906,28882528,28484880,28126686,28117557,27287710,27206562,26972339,26768186,25288802,25192513,25168163,24878975,24499211,22976764,21384229,12889654,9177117,29702557,37392701,37181075,37180418,36873091,34043239,33663989,33643843,33473337,32681750,31956197,31077402,30982613,30641270,30048639,29752652,29497882,29112118,29083788,28794993,28617415,28190645,28108845,28078493,27351072,26307094,26303607,24997537,24972800,23928051,23780368,20669985,15272470,7639006,38586167,38553482,38550576,38543765,38529389,38430517,38375626,38356679,38323760,38308356,38277989,38256263,38212860,38192425,38156787,38137041,38124489,38070824,38063435,38042739,38041964,38013006,38012812,37980206,37955240,37876147,37862385,37858231,37848450,37818800,37756622,37721175,37711075,37686358,37656362,37647829,37644541,37628636,37628591,37597336,37589195,37582787,37577973,37542277,37510265,37489290,37469072,37440071,37421173,37404822,37381987,37372388,37356182,37340906,37334838,37314161,37257447,37249665,37245379,37239976,37239314,37224763,37207862,37204045,37186866,37114839,37108612,37087816,37086590,37083278,37069668,37067065,37065762,37062452,37033976,37023501,36965289,36843332,36833299,36773065,36755425,36743691,36726472,36706865,36661206,36651831,36651519,36597345,36572041,36548717,36528660,36432581,36426838,36426412,36423686,36383066,36357165,36322149,36309700,36257191,36233305,36224347,36221102,36214454,36214423,36209585,36166480,36142510,36109000,36102343,36102038,36098446,36074069,35955863,35949226,35932216,35907899,35907674,35880963,35863433,35854365,35853369,35839600,35820419,35810431,35810430,35795184,35789514,35779835,35732497,35718084,35716054,35708014,35682409,35674301,35665995,35661384,35653343,35637269,35636252,35603178,35586945,35565658,35506765,35500025,35491370,35406718,35339718,35338746,35328062,35327592,35322404,35319586,35279850,35262690,35243670,35240324,35211808,35205402,35182234,35179230,35163229,35137040,35093147,35068072,35048409,35045343,35042660,35042526,34999954,34996714,34989216,34971077,34969094,34943782,34878535,34851357,34850579,34845930,34831340,34828263,34822769,34807425,34802815,34795158,34791337,34711829,34697631,34655400,34653363,34648194,34629439,34625939,34625039,34619643,34576024,34560682,34534370,34486878,34467644,34462534,34440401,34420056,34389986,34384782,34382076,34380733,34380532,34358634,34354042,34331832,34325731,34270726,34246313,34245688,34215481,34173795,34162022,34161696,34159722,34143952,34140212,34130600,34093448,34092405,34090370,34085516,34058199,34022244,34020684,33979636,33964207,33960646,33960418,33858316,33782433,33763932,33755596,33743737,33734437,33731878,33725261,33664285,33644825,33632285,33619652,33618527,33583911,33583022,33578445,33568770,33554500,33534079,33497766,33461977,33442744,33413482,33413275,33410539,33410528,33407896,33403770,33396746,33394555,33355195,33340551,33320481,33315951,33301762,33300232,33277529,33261925,33257509,33245474,33188132,33187827,33129689,33098688,33098103,33076454,33058492,33044030,33036649,33010785,32992000,32991969,32962735,32961316,32955910,32913123,32852845,32841164,32821050,32790950,32770116,32753748,32747946,32745073,32730773,32712172,32683677,32681751,32677746,32657896,32655146,32646569,32630370,32605344,32591345,32576142,32542927,32530140,32452540,32451662,32429657,32422350,32407885,32395830,32389449,32360901,32332102,32313197,32306098,32303557,32293671,32283553,32268899,32267060,32266963,32253875,32250540,32222543,32222031,32219930,32216104,32198969,32188137,32157688,32147747,32145091,32103184,32080367,32058063,32049654,32049367,32047108,32046761,32043565,32019583,32012848,32012444,31994750,31981409,31965062,31957011,31925597,31902100,31898852,31897643,31892318,31885188,31875565,31870226,31804708,31800099,31795264,31784520,31775018,31751626,31747834,31747049,31727010,31714901,31705726,31691304,31656175,31638560,31584066,31580894,31545528,31529350,31521203,31510962,31508908,31481313,31463900,31454904,31445883,31420886,31415112,31404112,31391289,31378432,31374155,31353854,31326749,31308256,31271700,31266720,31257283,31232685,31231989,31231132,31200656,31153949,31153821,31118275,31117816,31115488,31101663,31095764,31089831,31086307,31067009,31036665,30976099,30961548,30959184,30950015,30945312,30943998,30939160,30931530,30904594,30873657,30858582,30834435,30817854,30776362,30770273,30746764,30740912,30708323[uid]

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500 results

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In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.

Conte F, Ashikov A, Mijdam R, van de Ven EGP, van Scherpenzeel M, Veizaj R, Mahalleh-Yousefi SP, Post MA, Huijben K, Panneman DM, Rodenburg RJT, Voermans NC, Garanto A, Koopman WJH, Wessels HJCT, Noga MJ, Lefeber DJ. Conte F, et al. Int J Mol Sci. 2023 May 4;24(9):8247. doi: 10.3390/ijms24098247. Int J Mol Sci. 2023. PMID: 37175952 Free PMC article.

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.

Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):530-538. doi: 10.1515/jpem-2022-0641. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37042760

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

Zhou SY. Zhou SY. Zhongguo Dang Dai Er Ke Za Zhi. 2023 Feb 15;25(2):223-228. doi: 10.7499/j.issn.1008-8830.2209049. Zhongguo Dang Dai Er Ke Za Zhi. 2023. PMID: 36854702 Free PMC article. Review. Chinese.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).

Balakrishnan B, Altassan R, Budhraja R, Liou W, Lupo A, Bryant S, Mankouski A, Radenkovic S, Preston GJ, Pandey A, Boudina S, Kozicz T, Morava-Kozicz E, Lai K. Balakrishnan B, et al. Transl Res. 2023 Jul;257:1-14. doi: 10.1016/j.trsl.2023.01.004. Epub 2023 Jan 26. Transl Res. 2023. PMID: 36709920

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Papi A, Zamani M, Shariati G, Sedaghat A, Seifi T, Negahdari S, Sedighzadeh SS, Zeighami J, Saberi A, Hamid M, Galehdari H. Papi A, et al. Mol Genet Genomic Med. 2023 Feb;11(2):e2099. doi: 10.1002/mgg3.2099. Epub 2022 Dec 29. Mol Genet Genomic Med. 2023. PMID: 36579437 Free PMC article.

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.

Bogdańska A, Lipiński P, Szymańska-Rożek P, Jezela-Stanek A, Rokicki D, Socha P, Tylki-Szymańska A. Bogdańska A, et al. Orphanet J Rare Dis. 2021 Jan 6;16(1):17. doi: 10.1186/s13023-020-01657-5. Orphanet J Rare Dis. 2021. PMID: 33407696 Free PMC article.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Mørkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. Conte F, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):135-146. doi: 10.1016/j.ymgme.2020.08.003. Epub 2020 Sep 17. Mol Genet Metab. 2020. PMID: 33342467 Free article.

Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1.

Beamer LJ. Beamer LJ. Biochimie. 2021 Apr;183:44-48. doi: 10.1016/j.biochi.2020.08.017. Epub 2020 Sep 6. Biochimie. 2021. PMID: 32898648 Review.

Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily.

Backe PH, Laerdahl JK, Kittelsen LS, Dalhus B, Mørkrid L, Bjørås M. Backe PH, et al. Sci Rep. 2020 Mar 27;10(1):5656. doi: 10.1038/s41598-020-62548-0. Sci Rep. 2020. PMID: 32221390 Free PMC article.

A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.

Stiers KM, Hansen RP, Daghlas BA, Mason KN, Zhu JS, Jakeman DL, Beamer LJ. Stiers KM, et al. J Inherit Metab Dis. 2020 Jul;43(4):861-870. doi: 10.1002/jimd.12222. Epub 2020 Feb 18. J Inherit Metab Dis. 2020. PMID: 32057119

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