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Items: 16

1.

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
2.

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

Weidler S, Stopsack KH, Hammermann J, Sommerburg O, Mall MA, Hoffmann GF, Kohlmüller D, Okun JG, Macek M Jr, Votava F, Krulišová V, Balaščaková M, Skalická V, Lee-Kirsch MA, Stopsack M.

J Cyst Fibros. 2016 Nov;15(6):752-758. doi: 10.1016/j.jcf.2016.07.002. Epub 2016 Jul 22.

3.

Analysis of the GH content within archived dried blood spots of newborn screening cards from children diagnosed with growth hormone deficiency after the neonatal period.

Binder G, Hettmann S, Weber K, Kohlmüller D, Schweizer R.

Growth Horm IGF Res. 2011 Dec;21(6):314-7. doi: 10.1016/j.ghir.2011.07.009. Epub 2011 Sep 8.

PMID:
21903439
4.
5.

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.

Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S.

Pediatr Res. 2005 Nov;58(5):873-80. Epub 2005 Sep 23.

PMID:
16183823
6.
7.

Inactivation of the glucocorticoid receptor in hepatocytes leads to fasting hypoglycemia and ameliorates hyperglycemia in streptozotocin-induced diabetes mellitus.

Opherk C, Tronche F, Kellendonk C, Kohlmüller D, Schulze A, Schmid W, Schütz G.

Mol Endocrinol. 2004 Jun;18(6):1346-53. Epub 2004 Mar 18.

PMID:
15031319
8.

Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation.

Schulze A, Schmidt C, Kohlmüller D, Hoffmann GF, Mayatepek E.

Clin Chim Acta. 2003 Sep;335(1-2):137-45.

PMID:
12927695
9.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF.

Pediatrics. 2003 Jun;111(6 Pt 1):1399-406.

PMID:
12777559
10.

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E.

Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8.

PMID:
12385891
11.

Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.

Kölker S, Okun JG, Ahlemeyer B, Wyse AT, Hörster F, Wajner M, Kohlmüller D, Mayatepek E, Krieglstein J, Hoffmann GF.

J Neurosci Res. 2002 May 15;68(4):424-31.

PMID:
11992468
12.

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis.

Kölker S, Okun JG, Hörster F, Assmann B, Ahlemeyer B, Kohlmüller D, Exner-Camps S, Mayatepek E, Krieglstein J, Hoffmann GF.

J Neurosci Res. 2001 Nov 15;66(4):666-73.

PMID:
11746386
13.

Transient trimethylaminuria in childhood.

Mayatepek E, Kohlmüller D.

Acta Paediatr. 1998 Nov;87(11):1205-7.

PMID:
9846928
14.

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.

Mayatepek E, Kohlmüller D.

Eur J Pediatr. 1998 Jul;157(7):605-6. No abstract available.

PMID:
9686827
15.

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.

Mayatepek E, Schröder M, Kohlmüller D, Bieger WP, Nützenadel W.

Acta Paediatr. 1997 Oct;86(10):1138-40.

PMID:
9350901
16.

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