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Items: 1 to 50 of 481

1.

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R; UCDC and the E-IMD consortia study group.

Hum Mutat. 2020 Jan 15. doi: 10.1002/humu.23983. [Epub ahead of print]

PMID:
31943503
2.

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.

Klinke G, Richter S, Monostori P, Schmidt-Mader B, García-Cazorla A, Artuch R, Christ S, Opladen T, Hoffmann GF, Blau N, Okun JG.

J Inherit Metab Dis. 2020 Jan 13. doi: 10.1002/jimd.12213. [Epub ahead of print]

PMID:
31930732
3.

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.

J Inherit Metab Dis. 2019 Dec 18. doi: 10.1002/jimd.12208. [Epub ahead of print]

PMID:
31849064
4.

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. 2019 Nov 25. doi: 10.1038/s41436-019-0698-4. [Epub ahead of print]

PMID:
31761904
5.

Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.

Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Mütze U, Posset R, Weiss KH, Hoffmann GF, Okun JG.

J Pediatr. 2020 Jan;216:165-172.e4. doi: 10.1016/j.jpeds.2019.07.052. Epub 2019 Oct 8.

PMID:
31604629
6.

Imaging of morphological and biochemical hallmarks of apoptosis with optimized optogenetic tools.

Godwin WC, Hoffmann GF, Gray TJ, Hughes RM.

J Biol Chem. 2019 Nov 8;294(45):16918-16929. doi: 10.1074/jbc.RA119.009141. Epub 2019 Oct 3.

PMID:
31582560
7.

Early prediction of phenotypic severity in Citrullinemia Type 1.

Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.

Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30.

8.

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.

Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F.

Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9.

9.

[Gene therapies for neuromuscular diseases].

Saffari A, Weiler M, Hoffmann GF, Ziegler A.

Nervenarzt. 2019 Aug;90(8):809-816. doi: 10.1007/s00115-019-0761-z. Review. German.

PMID:
31286145
10.

Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase.

Peters V, Morath M, Mack M, Liesert M, Buckel W, Hoffmann GF, Vockley J, Ghisla S, Zschocke J.

JIMD Rep. 2019 Mar 26;47(1):30-34. doi: 10.1002/jmd2.12026. eCollection 2019 May.

11.

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M.

J Inherit Metab Dis. 2019 Sep;42(5):975-983. doi: 10.1002/jimd.12138. Epub 2019 Jul 24.

PMID:
31222755
12.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW.

Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.

13.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C.

Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.

PMID:
31067009
14.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S.

Orphanet J Rare Dis. 2019 May 3;14(1):96. doi: 10.1186/s13023-019-1077-6.

15.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group.

Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.

PMID:
31018246
16.

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.

Breuer M, Guglielmi L, Zielonka M, Hemberger V, Kölker S, Okun JG, Hoffmann GF, Carl M, Sauer SW, Opladen T.

PLoS One. 2019 Apr 17;14(4):e0215162. doi: 10.1371/journal.pone.0215162. eCollection 2019.

17.

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

Teufel U, Burgard P, Meyburg J, Lindner M, Poeschl J, Ruef P, Hoffmann GF, Kölker S.

Orphanet J Rare Dis. 2019 Apr 8;14(1):80. doi: 10.1186/s13023-019-1055-z.

18.

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S.

Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.

19.

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.

Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Review.

PMID:
30952622
20.

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Ferreira CR, Hoffmann GF, Blau N.

Mol Genet Metab. 2019 May;127(1):28-30. doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26. Review.

PMID:
30928149
21.

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M.

Genet Med. 2019 Oct;21(10):2208-2215. doi: 10.1038/s41436-019-0480-7. Epub 2019 Mar 22.

PMID:
30899093
22.

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

Monostori P, Klinke G, Hauke J, Richter S, Bierau J, Garbade SF, Hoffmann GF, Langhans CD, Haas D, Okun JG.

PLoS One. 2019 Feb 28;14(2):e0212458. doi: 10.1371/journal.pone.0212458. eCollection 2019.

23.

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S.

Stem Cell Res. 2019 Mar;35:101398. doi: 10.1016/j.scr.2019.101398. Epub 2019 Feb 11.

24.

Neurometabolic Hereditary Diseases of Adults.

Hoffmann GF.

J Inherit Metab Dis. 2019 Feb 13. doi: 10.1002/jimd.12074. [Epub ahead of print]

PMID:
30761556
25.

Screening for asymptomatic β-cell autoimmunity in young children.

Ziegler AG, Hoffmann GF, Hasford J, Larsson HE, Danne T, Berner R, Penno M, Koralova A, Dunne J, Bonifacio E.

Lancet Child Adolesc Health. 2019 May;3(5):288-290. doi: 10.1016/S2352-4642(19)30028-8. Epub 2019 Feb 10. No abstract available.

PMID:
30745054
26.

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
27.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M.

J Inherit Metab Dis. 2019 Mar;42(2):295-302. doi: 10.1002/jimd.12010. Epub 2019 Jan 28.

PMID:
30693535
28.

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

Saffari A, Kölker S, Hoffmann GF, Weiler M, Ziegler A.

Ann Clin Transl Neurol. 2018 Nov 13;6(1):197-205. doi: 10.1002/acn3.689. eCollection 2019 Jan. Review.

29.

Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation.

Zielonka M, Probst J, Carl M, Hoffmann GF, Kölker S, Okun JG.

Exp Neurol. 2019 Apr;314:91-99. doi: 10.1016/j.expneurol.2019.01.008. Epub 2019 Jan 14.

PMID:
30653968
30.

Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses.

Lehmann R, Seitz A, Meyburg J, Hoppe B, Hoffmann GF, Tönshoff B, Huwendiek S.

BMC Res Notes. 2019 Jan 14;12(1):19. doi: 10.1186/s13104-019-4051-4.

31.

Risk Factors for Childhood Overweight and Obesity in Ukraine and Germany

Yakovenko V, Henn L, Bettendorf M, Zelinska N, Soloviova G, Hoffmann GF, Grulich-Henn J.

J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):247-252. doi: 10.4274/jcrpe.galenos.2019.2018.0157. Epub 2019 Jan 11.

32.

Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children.

Patry C, Kranig S, Rafat N, Schaible T, Toenshoff B, Hoffmann GF, Ries M.

BMJ Open. 2018 Nov 18;8(11):e023524. doi: 10.1136/bmjopen-2018-023524.

33.

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.

34.

Pediatric communication training: A project report on an innovative approach and its effects on student acceptance.

Helling-Bakki A, Lutz T, Kraft B, Hoffmann GF, Lehmann R.

Z Evid Fortbild Qual Gesundhwes. 2018 Nov;137-138:90-95. doi: 10.1016/j.zefq.2018.09.001. Epub 2018 Oct 19.

PMID:
30344093
35.

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.

Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY.

Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11.

PMID:
30217751
36.

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase.

Zielonka M, Breuer M, Okun JG, Carl M, Hoffmann GF, Kölker S.

PLoS One. 2018 Sep 10;13(9):e0203707. doi: 10.1371/journal.pone.0203707. eCollection 2018.

37.

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Himmelreich N, Shen N, Okun JG, Thiel C, Hoffmann GF, Blau N.

Mol Genet Metab. 2018 Sep;125(1-2):86-95. doi: 10.1016/j.ymgme.2018.06.011. Epub 2018 Jun 23.

PMID:
30037505
38.

Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis.

Breil T, Boettcher M, Hoffmann GF, Ries M.

BMJ Open. 2018 Jul 16;8(7):e021684. doi: 10.1136/bmjopen-2018-021684.

39.

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Garbade SF, Shen N, Himmelreich N, Haas D, Trefz FK, Hoffmann GF, Burgard P, Blau N.

Genet Med. 2019 Mar;21(3):580-590. doi: 10.1038/s41436-018-0081-x. Epub 2018 Jul 12.

PMID:
29997390
40.

High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.

Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Okun JG, Hoffmann GF.

World J Pediatr. 2018 Oct;14(5):470-481. doi: 10.1007/s12519-018-0159-1. Epub 2018 Jun 15.

PMID:
29948967
41.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S.

Mol Genet Metab Rep. 2018 May 21;16:5-10. doi: 10.1016/j.ymgmr.2018.05.003. eCollection 2018 Sep.

42.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.

Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB.

JIMD Rep. 2019;44:1-7. doi: 10.1007/8904_2018_115. Epub 2018 Jun 20.

43.

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M.

Genet Med. 2019 Feb;21(2):347-352. doi: 10.1038/s41436-018-0051-3. Epub 2018 Jun 6.

PMID:
29875421
44.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.

45.

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
46.

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Wolf NI, Zschocke J, Jakobs C, Rating D, Hoffmann GF.

Brain. 2018 Jun 1;141(6):e49. doi: 10.1093/brain/awy095. No abstract available.

PMID:
29659736
47.

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M.

Genet Med. 2018 Apr;20(4):474. doi: 10.1038/gim.2017.87. Epub 2017 Sep 28.

PMID:
29632345
48.

Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors.

Patry C, Betzen C, Fathalizadeh F, Fichtner A, Westhoff JH, Fleming T, Eckstein V, Bruckner T, Bielaszewska M, Karch H, Hoffmann GF, Tönshoff B, Rafat N.

Am J Physiol Renal Physiol. 2018 Oct 1;315(4):F861-F869. doi: 10.1152/ajprenal.00633.2017. Epub 2018 Mar 7.

49.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C.

Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8.

50.

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C.

Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31.

PMID:
29396028

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