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Items: 1 to 50 of 269

1.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R.

N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. No abstract available.

PMID:
31314961
2.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

PMID:
31256877
3.

Exome Sequencing in Children.

Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M.

Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197.

4.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Apr 14. doi: 10.1002/jimd.12100. [Epub ahead of print] Review.

PMID:
30982989
5.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A.

Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.

PMID:
30771299
6.

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor-Recipient Pairs.

Herden U, Grabhorn E, Santer R, Li J, Nadalin S, Rogiers X, Scherer MN, Braun F, Beime J, Lenhartz H, Muntau AC, Fischer L.

Liver Transpl. 2019 Jun;25(6):889-900. doi: 10.1002/lt.25423. Epub 2019 Apr 19.

PMID:
30712285
7.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2019 Aug;21(8):1899. doi: 10.1038/s41436-018-0336-6.

PMID:
30327536
8.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K.

Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005.

9.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC.

Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Erratum in: Genet Med. 2018 Oct 15;:.

10.

Dose-dependent behavioural fever responses in desert locusts challenged with the entomopathogenic fungus Metarhizium acridum.

Clancy LM, Jones R, Cooper AL, Griffith GW, Santer RD.

Sci Rep. 2018 Sep 21;8(1):14222. doi: 10.1038/s41598-018-32524-w.

11.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.

Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer MA, Denecke J, Santer R.

Neurogenetics. 2018 Aug;19(3):151-156. doi: 10.1007/s10048-018-0549-5. Epub 2018 May 28.

PMID:
29808465
12.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS.

J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13.

13.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

14.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Holsten T, Tsiakas K, Kordes U, Bison B, Pietsch T, Rutkowski S, Santer R, Schüller U.

Childs Nerv Syst. 2018 Mar;34(3):581-584. doi: 10.1007/s00381-017-3666-9. Epub 2017 Nov 22.

PMID:
29167993
15.

A generalized equation for the calculation of receptor noise limited colour distances in n-chromatic visual systems.

Clark RC, Santer RD, Brebner JS.

R Soc Open Sci. 2017 Sep 20;4(9):170712. doi: 10.1098/rsos.170712. eCollection 2017 Sep.

16.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh-Mann I, Müller I.

Hum Mutat. 2017 Nov;38(11):1511-1520. doi: 10.1002/humu.23306. Epub 2017 Sep 6.

PMID:
28762252
17.

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T.

Genet Med. 2018 Feb;20(2):259-268. doi: 10.1038/gim.2017.106. Epub 2017 Jul 27.

PMID:
28749473
18.

Increased Male-Male Mounting Behaviour in Desert Locusts during Infection with an Entomopathogenic Fungus.

Clancy LM, Cooper AL, Griffith GW, Santer RD.

Sci Rep. 2017 Jul 18;7(1):5659. doi: 10.1038/s41598-017-05800-4.

19.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

du Moulin M, Thies B, Blohm M, Oh J, Kemper MJ, Santer R, Mühlhausen C.

JIMD Rep. 2018;39:25-30. doi: 10.1007/8904_2017_44. Epub 2017 Jul 12.

20.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R.

Mitochondrion. 2017 Nov;37:55-61. doi: 10.1016/j.mito.2017.07.001. Epub 2017 Jul 8.

PMID:
28694194
21.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO.

Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22.

PMID:
28583327
22.

The first case of domino-split-liver transplantation in maple syrup urine disease.

Herden U, Li J, Fischer L, Brinkert F, Blohm M, Santer R, Nashan B, Grabhorn E.

Pediatr Transplant. 2017 Sep;21(6). doi: 10.1111/petr.12993. Epub 2017 Jun 5.

PMID:
28580726
23.

Developing photoreceptor-based models of visual attraction in riverine tsetse, for use in the engineering of more-attractive polyester fabrics for control devices.

Santer RD.

PLoS Negl Trop Dis. 2017 Mar 17;11(3):e0005448. doi: 10.1371/journal.pntd.0005448. eCollection 2017 Mar.

24.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW.

Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.

25.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. No abstract available.

26.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

27.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I.

JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067.

PMID:
27400410
28.

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.

Ninković D, Sarnavka V, Bašnec A, Ćuk M, Ramadža DP, Fumić K, Kušec V, Santer R, Barić I.

J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1083-8. doi: 10.1515/jpem-2016-0086. Review.

PMID:
27383869
29.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

Coady MJ, El Tarazi A, Santer R, Bissonnette P, Sasseville LJ, Calado J, Lussier Y, Dumayne C, Bichet DG, Lapointe JY.

J Am Soc Nephrol. 2017 Jan;28(1):85-93. doi: 10.1681/ASN.2015111282. Epub 2016 Jun 10.

30.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ.

J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22.

31.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau AC, Steinmann B.

Orphanet J Rare Dis. 2016 Apr 21;11:44. doi: 10.1186/s13023-016-0415-1.

32.

Phenylketonuria: Direct and indirect effects of phenylalanine.

Schlegel G, Scholz R, Ullrich K, Santer R, Rune GM.

Exp Neurol. 2016 Jul;281:28-36. doi: 10.1016/j.expneurol.2016.04.013. Epub 2016 Apr 14.

PMID:
27091224
33.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J.

Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Erratum in: Genet Med. 2016 Jun;18(6):649.

PMID:
26913920
34.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB.

Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.

35.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T.

Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003.

36.

A Receptor-Based Explanation for Tsetse Fly Catch Distribution between Coloured Cloth Panels and Flanking Nets.

Santer RD.

PLoS Negl Trop Dis. 2015 Oct 16;9(10):e0004121. doi: 10.1371/journal.pntd.0004121. eCollection 2015.

37.

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Schulte Althoff S, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T.

JIMD Rep. 2016;26:21-9. doi: 10.1007/8904_2015_455. Epub 2015 Aug 4.

38.

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

Fazeli W, Kaczmarek S, Kirschstein M, Santer R.

BMC Gastroenterol. 2015 Jul 28;15:90. doi: 10.1186/s12876-015-0316-0.

39.

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S.

J Lipid Res. 2015 Aug;56(8):1625-32. doi: 10.1194/jlr.M060756. Epub 2015 Jun 24.

40.

Correction: A colour opponent model that explains tsetse fly attraction to visual baits and can be used to investigate more efficacious bait materials.

Santer RD.

PLoS Negl Trop Dis. 2015 Apr 17;9(4):e0003723. doi: 10.1371/journal.pntd.0003723. eCollection 2015 Apr.

41.

[Neonatal metabolic imbalance -- hyperventilation in hyperammonemia].

Kehl TM, Tsiakas K, Mühlhausen C, Santer R, Walter C, von der Wense A, Singer D.

Z Geburtshilfe Neonatol. 2014 Dec;218(6):269-70. German. No abstract available.

PMID:
25658011
42.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA.

Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2.

PMID:
25642805
43.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann JB, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E.

JIMD Rep. 2015;20:65-75. doi: 10.1007/8904_2014_392. Epub 2015 Jan 28.

44.
45.

Hippocampal synaptic connectivity in phenylketonuria.

Horling K, Schlegel G, Schulz S, Vierk R, Ullrich K, Santer R, Rune GM.

Hum Mol Genet. 2015 Feb 15;24(4):1007-18. doi: 10.1093/hmg/ddu515. Epub 2014 Oct 8.

PMID:
25296915
46.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.

Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.

47.

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN, Steglich C, Santer R, Lukacs Z, Gal A.

JIMD Rep. 2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.

48.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R.

J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1.

PMID:
24687295
49.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F.

J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27.

50.

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.

Albers K, Schlein C, Wenner K, Lohse P, Bartelt A, Heeren J, Santer R, Merkel M.

Atherosclerosis. 2014 Mar;233(1):97-103. doi: 10.1016/j.atherosclerosis.2013.12.009. Epub 2014 Jan 8.

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