Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 124

1.

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

Kalim A, Fitzsimons P, Till C, Fernando M, Mayne P, Sass JO, Crushell E.

Brain Dev. 2017 Feb 9. pii: S0387-7604(17)30005-0. doi: 10.1016/j.braindev.2017.01.005. [Epub ahead of print]

PMID:
28190537
2.

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.

Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T.

Mol Med Rep. 2016 Nov;14(5):4906-4910. doi: 10.3892/mmr.2016.5819.

PMID:
27748876
3.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD.

Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008.

PMID:
27477828
4.

mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.

Grahammer F, Ramakrishnan SK, Rinschen MM, Larionov AA, Syed M, Khatib H, Roerden M, Sass JO, Helmstaedter M, Osenberg D, Kühne L, Kretz O, Wanner N, Jouret F, Benzing T, Artunc F, Huber TB, Theilig F.

J Am Soc Nephrol. 2017 Jan;28(1):230-241. doi: 10.1681/ASN.2015111224.

PMID:
27297946
5.

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA.

Metab Brain Dis. 2016 Jun;31(3):587-92. doi: 10.1007/s11011-015-9778-6.

PMID:
26686503
6.

Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.

Balasubramaniam S, Lewis B, Greed L, Meili D, Flier A, Yamamoto R, Bilić K, Till C, Sass JO.

JIMD Rep. 2016;29:33-38.

7.

Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide.

Staubli G, Baumgartner M, Sass JO, Hersberger M.

Pediatr Emerg Care. 2016 Dec;32(12):827-829.

PMID:
26569075
8.

Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.

Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG.

J Am Soc Nephrol. 2016 May;27(5):1426-36. doi: 10.1681/ASN.2015040411.

PMID:
26376857
9.

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM.

J Inherit Metab Dis. 2015 Sep;38(5):873-9. doi: 10.1007/s10545-015-9841-9.

10.

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A.

Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766.

PMID:
25251209
11.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

12.

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

Laemmle A, Balmer C, Doell C, Sass JO, Häberle J, Baumgartner MR.

Eur J Pediatr. 2014 Jul;173(7):971-4. doi: 10.1007/s00431-014-2359-6.

PMID:
24916042
13.

Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models.

Kovacs Z, Werner B, Rassi A, Sass JO, Martin-Fiori E, Bernasconi M.

J Control Release. 2014 Aug 10;187:74-82. doi: 10.1016/j.jconrel.2014.05.033. Erratum in: J Control Release. 2014 Oct 28;192:294.

PMID:
24878186
14.

Amino acids regulate transgene expression in MDCK cells.

Torrente M, Guetg A, Sass JO, Arps L, Ruckstuhl L, Camargo SM, Verrey F.

PLoS One. 2014 May 5;9(5):e96823. doi: 10.1371/journal.pone.0096823.

15.

Ketone body metabolism and its defects.

Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y.

J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Review.

PMID:
24706027
16.

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.

Grünert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO.

J Diabetes Metab Disord. 2013 Jul 5;12(1):37. doi: 10.1186/2251-6581-12-37.

17.

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.

Grünert SC, Brichta CM, Krebs A, Clement HW, Rauh R, Fleischhaker C, Hennighausen K, Sass JO, Schwab KO.

Nutr J. 2013 May 14;12:60. doi: 10.1186/1475-2891-12-60.

18.

Genetic basis of hyperlysinemia.

Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M.

Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57.

19.

Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.

Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G.

JIMD Rep. 2012;5:35-43. doi: 10.1007/8904_2011_89.

20.

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.

J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z.

Items per page

Supplemental Content

Support Center