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Items: 1 to 20 of 60

1.

Inborn errors of metabolism leading to neuronal migration defects.

Schiller S, Rosewich H, Grünewald S, Gärtner J.

J Inherit Metab Dis. 2019 Nov 20. doi: 10.1002/jimd.12194. [Epub ahead of print] Review.

PMID:
31747049
2.

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.

3.

Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.

Ciancio JIR, Furman M, Banka S, Grunewald S.

JIMD Rep. 2019 Jul 26;49(1):43-47. doi: 10.1002/jmd2.12072. eCollection 2019 Sep.

4.

Liver neoplasms in methylmalonic aciduria: An emerging complication.

Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S.

J Inherit Metab Dis. 2019 Sep;42(5):793-802. doi: 10.1002/jimd.12143. Epub 2019 Jul 17.

PMID:
31260114
5.

Bullying bystander behaviors: The role of coping effectiveness and the moderating effect of gender.

Parris L, Jungert T, Thornberg R, Varjas K, Meyers J, Grunewald S, Shriberg D.

Scand J Psychol. 2020 Feb;61(1):38-46. doi: 10.1111/sjop.12564. Epub 2019 Jun 28.

PMID:
31250925
6.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
7.

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.

Kuiper A, Grünewald S, Murphy E, Coenen MA, Eggink H, Zutt R, Rubio-Gozalbo ME, Bosch AM, Williams M, Derks TGJ, Lachmann RHL, Brouwers MCGJ, Janssen MCH, Tijssen MA, de Koning TJ.

J Inherit Metab Dis. 2019 May;42(3):451-458. doi: 10.1002/jimd.12054. Epub 2019 Feb 27.

PMID:
30815886
8.

Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (HepaStem) in Urea Cycle Disorders and Crigler-Najjar Syndrome Patients.

Smets F, Dobbelaere D, McKiernan P, Dionisi-Vici C, Broué P, Jacquemin E, Lopes AI, Gonçalves I, Mandel H, Pawlowska J, Kamińska D, Shteyer E, Torre G, Shapiro R, Eyskens F, Clapuyt P, Gissen P, Pariente D, Grunewald S, Yudkoff M, Binda MM, Najimi M, Belmonte N, de Vos B, Thonnard J, Sokal E.

Transplantation. 2019 Sep;103(9):1903-1915. doi: 10.1097/TP.0000000000002605.

PMID:
30801523
9.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
10.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
11.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E.

J Inherit Metab Dis. 2019 Jan;42(1):169-177. doi: 10.1002/jimd.12038.

12.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
13.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium.

J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031.

PMID:
30740724
14.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP.

JCI Insight. 2018 Dec 6;3(23). pii: 124351. doi: 10.1172/jci.insight.124351.

15.

Liver transplantation for neonatal-onset citrullinemia.

Vara R, Dhawan A, Deheragoda M, Grünewald S, Pierre G, Heaton ND, Vilca-Melendez H, Hadžić N.

Pediatr Transplant. 2018 Jun;22(4):e13191. doi: 10.1111/petr.13191. Epub 2018 May 3.

PMID:
29726081
16.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

PMID:
29330779
17.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
18.

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.

19.

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

Welling L, Waisbren SE, Antshel KM, Colhoun HO, Gautschi M, Grünewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM.

JIMD Rep. 2017;37:115-123. doi: 10.1007/8904_2017_22. Epub 2017 Apr 9.

20.

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.

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