PubMed for id: 332072

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32250540,28816422,24144945,23890587,22327749,22242004,17273964,34956305,19419701,18500572,38702815,38675832,38672513,38671375,38639795,38622929,38622837,38621945,38613786,38604071,38587076,38581946,38566993,38550576,38536229,38521572,38515461,38500102,38484798,38483964,38430517,38417795,38408602,38401583,38401037,38400085,38399999,38396140,38375626,38374023,38373478,38363599,38360646,38357917,38355446,38323760,38308356,38302983,38281643,38277301,38277230,38275824,38272461,38272448,38272223,38256263,38256083,38246267,38245572,38230579,38225646,38206856,38203654,38193697,38189041,38163666,38156787,38147151,38141699,38124489,38110367,38104475,38092894,38086285,38081351,38070824,38063435,38063421,38062838,38062836,38056796,38049831,38041964,38031457,38027129,38019934,38013006,38007217,38005926,38000783,37996652,37993935,37981210,37980206,37955240,37928271,37926486,37913943,37896867,37896808,37895321,37895235,37887288,37876147,37868973,37865317,37862385,37858678,37858231,37857833,37848450,37848414,37834292,37822011,37813174,37796703,37782459,37774431,37767796,37756622,37747017,37721175,37715389,37711075,37688413,37686358,37682164,37679419,37676252,37669699,37666053,37662938,37656362,37647829,37644541,37644110,37643018,37632054,37628636,37616596,37608279,37607435,37597336,37589195,37577973,37569679,37543361,37542068,37510265,37499263,37493577,37489290,37469072,37468949,37467082,37453419,37449418,37443770,37440071,37421173,37404822,37392701,37381987,37381936,37378543,37372388,37366623,37356182,37354227,37344746,37343082,37341899,37340906,37334838,37334351,37322179,37298354,37286630,37283757,37265706,37257447,37254016,37249665,37247228,37245379,37244369,37243758,37239976,37235776,37224763,37211816,37207862,37204045,37194416,37193819,37188790,37186866,37175952,37116708,37108612,37105505,37093892,37087885,37087816,37086924,37086590,37083278,37080587,37079572,37076827,37072097,37070640,37069668,37067567,37067065,37065762,37062903,37062452,37042760,37042462,37039701,37027004,37023501,37023126,37019903,37015946,36992463,36990368,36982794,36982780,36965289,36951076,36944899,36920729,36911920,36907520,36880961,36879070,36877072,36870058,36854702,36852982,36846897,36843332,36833299,36810733,36802732,36789459,36787362,36787035,36779605,36773065,36759348,36755425,36755019,36747002,36743691,36727518,36726472,36723867,36721195,36718957,36709920,36706865,36683140,36681659,36674948,36656019,36651831,36651519,36633947,36626516,36606601,36604564,36604449,36598201,36597345,36583241,36580664,36579437,36576887,36563681,36531510,36528660,36504105,36499139,36480520,36475339,36473071,36472974,36469255,36454274,36444643,36439876,36430707,36426838,36426412,36423686,36411187,36403858,36383675,36383066,36366545,36366419,36361941,36361553,36360300,36357165,36329114,36328134,36325266,36322632,36322149,36322147,36309700,36298677,36293031,36285457,36281651,36271875,36270990,36259357,36257191,36256656,36255681,36248868,36233305,36226790,36224347,36224278,36221102,36217579,36214454,36214423,36213325,36213261,36209585,36206551,36201890,36191180,36187126,36176242,36166480,36153450,36151332,36148785,36146827,36142510,36142123,36140740,36131022,36126862,36122205,36110252,36102038,36096395,36096069,36095053,36094739,36067943,36041310,36010590,36004332,36000484,35998397,35993736,35970386,35968817,35964012,35955863,35951625,35949226,35938531,35932216,35926154,35907899,35907674,35900664,35900198,35897761,35896117,35883652,35882856,35881779,35879546,35878183,35863433,35862268,35853369,35839600,35838085,35817809,35811520,35810431,35810430,35809815,35789514,35788050,35781691,35779835,35773591,35767152,35766008,35763665,35761402,35741825,35735790,35732497,35718910,35718084,35716054,35697846,35682409,35674301,35670884,35665995,35661384,35659910,35653343,35637269,35636252,35635097,35620871,35613260,35605405,35603587,35603178,35601017,35597864,35586945,35585241,35565658,35551696,35547758,35532338,35524383,35523283,35512028,35508753,35506765,35500025,35499352,35491370,35478145,35458538,35456500,35451082,35446786,35446114,35443721,35442417,35438634,35422763,35420349,35414481,35412111,35406718,35404278,35394422,35372102,35351864,35344438,35339718,35338746,35328062,35327592,35322856,35322404,35319586,35300924,35299963,35289315,35285699,35279850,35278842,35275192,35269824,35269582,35262690,35261214,35243670,35240324,35229908,35219784,35212163,35211808,35211729,35205402,35192893,35190260,35188454,35183508,35182234,35179230,35164559,35163229,35159390,35157273,35147994,35137040[uid]

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Results by year

Year	Number of Results
2007	1
2008	1
2009	1
2011	1
2013	3
2017	1
2020	1
2021	3
2022	217
2023	237
2024	74

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Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.

Hall BD, Stevenson RE, Jones JR. Hall BD, et al. Am J Med Genet A. 2020 Jun;182(6):1421-1425. doi: 10.1002/ajmg.a.61574. Epub 2020 Apr 6. Am J Med Genet A. 2020. PMID: 32250540

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Rush ET, Baker CV, Rizzo WB. Rush ET, et al. Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287. Am J Med Genet A. 2017. PMID: 28816422

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Lieu MT, et al. Mol Genet Metab. 2013 Dec;110(4):484-9. doi: 10.1016/j.ymgme.2013.09.016. Epub 2013 Oct 4. Mol Genet Metab. 2013. PMID: 24144945 Free PMC article.

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.

Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G. Helander A, et al. Mol Genet Metab. 2013 Nov;110(3):342-4. doi: 10.1016/j.ymgme.2013.07.002. Epub 2013 Jul 10. Mol Genet Metab. 2013. PMID: 23890587

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Kapusta L, Zucker N, Frenckel G, Medalion B, Ben Gal T, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E. Kapusta L, et al. Heart Fail Rev. 2013 Mar;18(2):187-96. doi: 10.1007/s10741-012-9302-6. Heart Fail Rev. 2013. PMID: 22327749 Free PMC article.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Lefeber DJ, et al. PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242004 Free PMC article.

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T. Kranz C, et al. Am J Hum Genet. 2007 Mar;80(3):433-40. doi: 10.1086/512130. Epub 2007 Jan 31. Am J Hum Genet. 2007. PMID: 17273964 Free PMC article.

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Komlosi K, Claris O, Collardeau-Frachon S, Kopp J, Hausser I, Mazereeuw-Hautier J, Jonca N, Zimmer AD, Sanlaville D, Fischer J. Komlosi K, et al. Front Genet. 2021 Dec 8;12:719624. doi: 10.3389/fgene.2021.719624. eCollection 2021. Front Genet. 2021. PMID: 34956305 Free PMC article.

Hypoglycosylation due to dolichol metabolism defects.

Denecke J, Kranz C. Denecke J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):888-95. doi: 10.1016/j.bbadis.2009.01.013. Epub 2009 Feb 3. Biochim Biophys Acta. 2009. PMID: 19419701 Free article. Review.

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572

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