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Items: 1 to 20 of 131

1.

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Isler J, Rüfenacht V, Gemperle C, Allegri G, Häberle J.

JIMD Rep. 2020 Jan 9;52(1):28-34. doi: 10.1002/jmd2.12091. eCollection 2020 Mar.

2.

Editorial.

Häberle J, Thöny B.

J Inherit Metab Dis. 2019 Nov;42(6):1041-1043. doi: 10.1002/jimd.12179. No abstract available.

PMID:
31769067
3.

Glycogen storage disease type VI: clinical course and molecular background.

Aeppli TR, Rymen D, Allegri G, Bode PK, Häberle J.

Eur J Pediatr. 2020 Mar;179(3):405-413. doi: 10.1007/s00431-019-03499-1. Epub 2019 Nov 26.

PMID:
31768638
4.

Response to Baertling et al.

Häberle J, Rüfenacht V.

Genet Med. 2020 Mar;22(3):656. doi: 10.1038/s41436-019-0678-8. Epub 2019 Oct 22. No abstract available.

PMID:
31641284
5.

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.

Truong B, Allegri G, Liu XB, Burke KE, Zhu X, Cederbaum SD, Häberle J, Martini PGV, Lipshutz GS.

Proc Natl Acad Sci U S A. 2019 Oct 15;116(42):21150-21159. doi: 10.1073/pnas.1906182116. Epub 2019 Sep 9.

6.

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM, Arranz JA, Häberle J, Angaroni CJ, Bezard M, Guelbert N, Becerra A, Peralta F, de Kremer RD, Laróvere LE.

Orphanet J Rare Dis. 2019 Aug 19;14(1):203. doi: 10.1186/s13023-019-1177-3.

7.

Sitosterolemia-10 years observation in two sisters.

Veit L, Allegri Machado G, Bürer C, Speer O, Häberle J.

JIMD Rep. 2019 May 28;48(1):4-10. doi: 10.1002/jmd2.12038. eCollection 2019 Jul.

8.

Analysis of the Qatari R336C cystathionine β-synthase protein in mice.

Gupta S, Gallego-Villar L, Wang L, Lee HO, Nasrallah G, Al-Dewik N, Häberle J, Thöny B, Blom HJ, Ben-Omran T, Kruger WD.

J Inherit Metab Dis. 2019 Sep;42(5):831-838. doi: 10.1002/jimd.12140. Epub 2019 Jul 10.

PMID:
31240737
9.

Urea cycle disorders-update.

Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K.

J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20. Review.

PMID:
31110235
10.

Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.

Lee HO, Gallego-Villar L, Grisch-Chan HM, Häberle J, Thöny B, Kruger WD.

Hum Gene Ther. 2019 Sep;30(9):1093-1100. doi: 10.1089/hum.2019.014. Epub 2019 Jun 13.

PMID:
31084364
11.

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
12.

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 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. Review.

PMID:
30982989
13.

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.

Al-Dewik N, Ali A, Mahmoud Y, Shahbeck N, Ali R, Mahmoud L, Al-Mureikhi M, Al-Mesaifri F, Musa S, El-Akouri K, Almulla M, Al Saadi R, Nasrallah GK, Samara M, Abdoh G, Rifai HA, Häberle J, Thöny B, Kruger W, Blom HJ, Ben-Omran T.

J Inherit Metab Dis. 2019 Sep;42(5):818-830. doi: 10.1002/jimd.12099. Epub 2019 May 8.

PMID:
30968424
14.

Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.

Diez-Fernandez C, Hertig D, Loup M, Diserens G, Henry H, Vermathen P, Nuoffer JM, Häberle J, Braissant O.

J Inherit Metab Dis. 2019 Nov;42(6):1077-1087. doi: 10.1002/jimd.12090. Epub 2019 Apr 14. Review.

PMID:
30907007
15.

Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.

Zahid M, Khan AH, Yunus ZM, Chen BC, Steinmann B, Johannes H, Afroze B.

J Pak Med Assoc. 2019 Mar;69(3):432-436.

16.

A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.

Srinivasan RC, Zabulica M, Hammarstedt C, Wu T, Gramignoli R, Kannisto K, Ellis E, Karadagi A, Fingerhut R, Allegri G, Rüfenacht V, Thöny B, Häberle J, Nuoffer JM, Strom SC.

J Inherit Metab Dis. 2019 Nov;42(6):1054-1063. doi: 10.1002/jimd.12067. Epub 2019 Apr 2.

17.

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.

Khoja S, Nitzahn M, Truong B, Lambert J, Willis B, Allegri G, Rüfenacht V, Häberle J, Lipshutz GS.

J Inherit Metab Dis. 2019 Nov;42(6):1044-1053. doi: 10.1002/jimd.12048. Epub 2019 Mar 5.

PMID:
30835861
18.

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
19.

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J.

J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5.

PMID:
30723942
20.

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.

Allegri G, Deplazes S, Rimann N, Causton B, Scherer T, Leff JW, Diez-Fernandez C, Klimovskaia A, Fingerhut R, Krijt J, Kožich V, Nuoffer JM, Grisch-Chan HM, Thöny B, Häberle J.

J Inherit Metab Dis. 2019 Nov;42(6):1064-1076. doi: 10.1002/jimd.12068. Epub 2019 Mar 13. Review.

PMID:
30714172

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