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Items: 1 to 50 of 213

1.

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.

Brogden G, Shammas H, Walters F, Maalouf K, Das AM, Naim HY, Rizk S.

Int J Mol Sci. 2020 Mar 19;21(6). pii: E2101. doi: 10.3390/ijms21062101.

2.

Treatment of Fabry disease with migalastat - outcome from a prospective observational multicenter study (FAMOUS).

Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, Stumpfe K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kühl S, Brand E.

Clin Pharmacol Ther. 2020 Mar 21. doi: 10.1002/cpt.1832. [Epub ahead of print]

PMID:
32198894
3.

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A.

JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar.

4.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.

Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M; MetabERN collaboration group.

Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5.

5.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D.

Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25.

PMID:
31761904
6.

Alpinia nigra fruits mediated synthesis of silver nanoparticles and their antimicrobial and photocatalytic activities.

Baruah D, Yadav RNS, Yadav A, Das AM.

J Photochem Photobiol B. 2019 Dec;201:111649. doi: 10.1016/j.jphotobiol.2019.111649. Epub 2019 Nov 2.

PMID:
31710925
7.

Chemical constituents from the leaves of Elaeocarpus floribundus.

Ogundele AV, Das AM.

Nat Prod Res. 2019 Aug 2:1-4. doi: 10.1080/14786419.2019.1637870. [Epub ahead of print]

PMID:
31373228
8.

Research activity and capability in the European reference network MetabERN.

Heard JM, Bellettato C, van Lingen C, Scarpa M; MetabERN collaboration group.

Orphanet J Rare Dis. 2019 May 29;14(1):119. doi: 10.1186/s13023-019-1091-8.

9.

Towards global elimination of cervical cancer in all groups of women.

Kumar P, Gupta S, Das AM, Das BC.

Lancet Oncol. 2019 May;20(5):e237. doi: 10.1016/S1470-2045(19)30170-6. No abstract available.

PMID:
31044712
10.

Influences of Hypoxia Exercise on Whole-Body Insulin Sensitivity and Oxidative Metabolism in Older Individuals.

Chobanyan-Jürgens K, Scheibe RJ, Potthast AB, Hein M, Smith A, Freund R, Tegtbur U, Das AM, Engeli S, Jordan J, Haufe S.

J Clin Endocrinol Metab. 2019 Nov 1;104(11):5238-5248. doi: 10.1210/jc.2019-00411.

PMID:
30942862
11.

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Shammas H, Kuech EM, Rizk S, Das AM, Naim HY.

Sci Rep. 2019 Mar 28;9(1):5292. doi: 10.1038/s41598-019-41707-y.

12.

Impostor Syndrome: Could It Be Holding You or Your Mentees Back?

Chandra S, Huebert CA, Crowley E, Das AM.

Chest. 2019 Jul;156(1):26-32. doi: 10.1016/j.chest.2019.02.325. Epub 2019 Mar 11. No abstract available.

PMID:
30872019
13.

Geriatric club attached to a primary care hospital as an effort to physically, socially, and mentally engage elderly: A case study from Kerala, India.

Premnazir L, Nair AS, Suji S, Das AM, Divyamol S, Rakesh PS.

J Family Med Prim Care. 2018 Nov-Dec;7(6):1476-1481. doi: 10.4103/jfmpc.jfmpc_172_18.

14.

Barriers of Drug Adherence among Patients with Epilepsy: in Tertiary Care Hospital, South India.

Das AM, Ramamoorthy L, Narayan SK, Wadwekar V.

J Caring Sci. 2018 Dec 1;7(4):177-181. doi: 10.15171/jcs.2018.027. eCollection 2018 Dec.

15.

Development and validation of GC-MS methods for the comprehensive analysis of amino acids in plasma and urine and applications to the HELLP syndrome and pediatric kidney transplantation: evidence of altered methylation, transamidination, and arginase activity.

Hanff E, Ruben S, Kreuzer M, Bollenbach A, Kayacelebi AA, Das AM, von Versen-Höynck F, von Kaisenberg C, Haffner D, Ückert S, Tsikas D.

Amino Acids. 2019 Mar;51(3):529-547. doi: 10.1007/s00726-018-02688-w. Epub 2019 Jan 2.

PMID:
30604095
16.

Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential.

Chao MM, Illsinger S, Yoshimi A, Das AM, Kratz CP.

Klin Padiatr. 2017 Nov;229(6):e1. doi: 10.1055/a-0820-5131. Epub 2018 Dec 18.

PMID:
30562813
17.

Synthesis and characterization of a biodegradable Cellulose acetate-montmorillonite composite for effective adsorption of Eosin Y.

Goswami M, Das AM.

Carbohydr Polym. 2019 Feb 15;206:863-872. doi: 10.1016/j.carbpol.2018.11.040. Epub 2018 Nov 15.

PMID:
30553395
18.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB.

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

19.

Factors associated with stillbirths in Haryana, India: a qualitative study.

Negandhi PH, Neogi SB, Das AM, Chopra S, Phogat A, Sahota R, Gupta RK, Zodpey S, Gupta R.

WHO South East Asia J Public Health. 2018 Sep;7(2):114-121. doi: 10.4103/2224-3151.239423.

20.

Biogenic synthesis of gold nanoparticles and their application in photocatalytic degradation of toxic dyes.

Baruah D, Goswami M, Yadav RNS, Yadav A, Das AM.

J Photochem Photobiol B. 2018 Sep;186:51-58. doi: 10.1016/j.jphotobiol.2018.07.002. Epub 2018 Jul 7.

PMID:
30015060
21.

Synthesis of cellulose impregnated copper nanoparticles as an efficient heterogeneous catalyst for CN coupling reactions under mild conditions.

Goswami M, Das AM.

Carbohydr Polym. 2018 Sep 1;195:189-198. doi: 10.1016/j.carbpol.2018.04.033. Epub 2018 Apr 24.

PMID:
29804968
22.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S.

Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30.

PMID:
29665094
23.

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

Janzen N, Hofmann AD, Schmidt G, Das AM, Illsinger S.

Orphanet J Rare Dis. 2017 Dec 21;12(1):187. doi: 10.1186/s13023-017-0737-7.

24.

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.

25.

Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential.

Chao MM, Illsinger S, Yoshimi A, Das AM, Kratz CP.

Klin Padiatr. 2017 Nov;229(6):355-357. doi: 10.1055/s-0043-120266. Epub 2017 Nov 13. No abstract available.

PMID:
29132166
26.

Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency.

Potthast AB, Heuer T, Warneke SJ, Das AM.

PLoS One. 2017 Oct 23;12(10):e0186517. doi: 10.1371/journal.pone.0186517. eCollection 2017.

27.

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Das AM.

Appl Clin Genet. 2017 Jul 24;10:43-48. doi: 10.2147/TACG.S113310. eCollection 2017. Review.

28.

Dietary Considerations in Tyrosinemia Type I.

van Spronsen FJ, van Rijn M, Meyer U, Das AM.

Adv Exp Med Biol. 2017;959:197-204. doi: 10.1007/978-3-319-55780-9_18. Review.

PMID:
28755197
29.

Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening.

Das AM, Mayorandan S, Janzen N.

Adv Exp Med Biol. 2017;959:125-132. doi: 10.1007/978-3-319-55780-9_11. Review.

PMID:
28755190
30.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO.

Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27.

PMID:
28689740
31.

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
32.

[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy].

Das AM, Lagler F, Beck M, Scarpa M, Lampe C.

Klin Padiatr. 2017 May;229(3):168-174. doi: 10.1055/s-0043-103088. Epub 2017 May 2. German.

PMID:
28464188
33.

HELLP Syndrome: Altered Hypoxic Response of the Fatty Acid Oxidation Regulator SIRT 4.

Sandvoß M, Potthast AB, von Versen-Höynck F, Das AM.

Reprod Sci. 2017 Apr;24(4):568-574. doi: 10.1177/1933719116667216.

PMID:
31974784
34.

Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.

Brogden G, Shammas H, Maalouf K, Naim SL, Wetzel G, Amiri M, von Köckritz-Blickwede M, Das AM, Naim HY.

Biosci Rep. 2017 Apr 28;37(2). pii: BSR20160402. doi: 10.1042/BSR20160402. Print 2017 Apr 30.

35.

Comprehensive analysis of the L-arginine/L-homoarginine/nitric oxide pathway in preterm neonates: potential roles for homoarginine and asymmetric dimethylarginine in foetal growth.

Buck A, Kayacelebi AA, Chobanyan-Jürgens K, Illsinger S, Bohnhorst B, Beckmann B, Hanff E, Das AM, Tsikas D, Lücke T.

Amino Acids. 2017 Apr;49(4):783-794. doi: 10.1007/s00726-017-2382-9. Epub 2017 Feb 4.

PMID:
28161799
36.

Analytical challenges in the assessment of NO synthesis from L-arginine in the MELAS syndrome.

Hanff E, Kayacelebi AA, Mariotti F, Herrmann C, Obermann M, Das AM, Tsikas D.

Int J Cardiol. 2017 May 1;234:141-142. doi: 10.1016/j.ijcard.2016.12.036. Epub 2016 Dec 23. No abstract available.

PMID:
28041706
37.

Mobile-based effective vaccine management tool: An m-health initiative implemented by UNICEF in Bihar.

Negandhi P, Chauhan M, Das AM, Neogi SB, Sharma J, Sethy G.

Indian J Public Health. 2016 Oct-Dec;60(4):334-335. doi: 10.4103/0019-557X.195869.

38.

Computer tablet-based health technology for strengthening maternal and child tracking in Bihar.

Negandhi P, Chauhan M, Das AM, Sharma J, Neogi S, Sethy G.

Indian J Public Health. 2016 Oct-Dec;60(4):329-333. doi: 10.4103/0019-557X.195868.

39.

Using nonpneumatic anti-shock garment for postpartum hemorrhage management and referral at the public health facilities: A pilot study in two districts of Bihar.

Sharma J, Negandhi P, Das AM, Sethy G, Neogi SB, Ali SH.

Indian J Public Health. 2016 Oct-Dec;60(4):316-322. doi: 10.4103/0019-557X.195866. Erratum in: Indian J Public Health. 2017 Jan-Mar;61(1):63.

40.

The l-arginine/NO pathway in the MELAS syndrome: An insufficiently explored and controversial research area.

Hanff E, Kayacelebi AA, Herrmann C, Obermann M, Das AM, Tsikas D.

Int J Cardiol. 2017 Feb 15;229:27. doi: 10.1016/j.ijcard.2016.11.008. Epub 2016 Nov 9. No abstract available.

PMID:
27863941
41.

Melanomas prevent endothelial cell death under restrictive culture conditions by signaling through AKT and p38 MAPK/ ERK-1/2 cascades.

Das AM, Pescatori M, Vermeulen CE, Rens JA, Seynhaeve AL, Koning GA, Eggermont AM, Ten Hagen TL.

Oncoimmunology. 2016 Aug 12;5(10):e1219826. eCollection 2016.

42.

Lipid phosphatase SHIP2 functions as oncogene in colorectal cancer by regulating PKB activation.

Hoekstra E, Das AM, Willemsen M, Swets M, Kuppen PJ, van der Woude CJ, Bruno MJ, Shah JP, Ten Hagen TL, Chisholm JD, Kerr WG, Peppelenbosch MP, Fuhler GM.

Oncotarget. 2016 Nov 8;7(45):73525-73540. doi: 10.18632/oncotarget.12321.

43.

HELLP Syndrome.

Sandvoß M, Potthast AB, von Versen-Höynck F, Das AM.

Reprod Sci. 2017 Apr;24(4):568-574. doi: 10.1177/1933719116667216. Epub 2016 Sep 27.

PMID:
27651178
44.

Unaltered l-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?

Hanff E, Kayacelebi AA, Herrmann C, Obermann M, Das AM, Tsikas D.

Int J Cardiol. 2016 Nov 15;223:479-481. doi: 10.1016/j.ijcard.2016.08.211. Epub 2016 Aug 12. No abstract available.

PMID:
27544610
45.

Tissue inhibitor of metalloproteinase-3 (TIMP3) expression decreases during melanoma progression and inhibits melanoma cell migration.

Das AM, Bolkestein M, van der Klok T, Oude Ophuis CM, Vermeulen CE, Rens JA, Dinjens WN, Atmodimedjo PN, Verhoef C, Koljenović S, Smits R, Ten Hagen TL, Eggermont AM.

Eur J Cancer. 2016 Oct;66:34-46. doi: 10.1016/j.ejca.2016.06.020. Epub 2016 Aug 11.

PMID:
27522248
46.

Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up.

Kammer J, Ziesing S, Davila LA, Bültmann E, Illsinger S, Das AM, Haffner D, Hartmann H.

Neuropediatrics. 2016 Oct;47(5):308-17. doi: 10.1055/s-0036-1584325. Epub 2016 Jun 14.

PMID:
27299367
47.

Increased PTP1B expression and phosphatase activity in colorectal cancer results in a more invasive phenotype and worse patient outcome.

Hoekstra E, Das AM, Swets M, Cao W, van der Woude CJ, Bruno MJ, Peppelenbosch MP, Kuppen PJ, Ten Hagen TL, Fuhler GM.

Oncotarget. 2016 Apr 19;7(16):21922-38. doi: 10.18632/oncotarget.7829.

48.

Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases.

Das AM.

J Pharmacol Toxicol Methods. 2016 Sep-Oct;81:9-14. doi: 10.1016/j.vascn.2016.02.182. Epub 2016 Feb 26. Review.

PMID:
26921514
49.

Extraction of cellulose from agricultural waste using Montmorillonite K-10/LiOH and its conversion to renewable energy: Biofuel by using Myrothecium gramineum.

Das AM, Hazarika MP, Goswami M, Yadav A, Khound P.

Carbohydr Polym. 2016 May 5;141:20-7. doi: 10.1016/j.carbpol.2015.12.070. Epub 2015 Dec 30.

PMID:
26876992
50.

Gestational diabetes induces alterations of sirtuins in fetal endothelial cells.

Gui J, Potthast A, Rohrbach A, Borns K, Das AM, von Versen-Höynck F.

Pediatr Res. 2016 May;79(5):788-98. doi: 10.1038/pr.2015.269. Epub 2015 Dec 30.

PMID:
26717002

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