KOBV Portal

1

Online Resource

Identification of enzymes involved in oxidation of phenylbutyrate

Palir, Neža ; Ruiter, Jos P.N. ; Wanders, Ronald J.A. ; [et al.]

Elsevier BV ; 2017

In: Journal of Lipid Research Vol. 58, No. 5 ( 2017-05), p. 955-961

add to watchlist on the watchlist

Details

In: Journal of Lipid Research, Elsevier BV, Vol. 58, No. 5 ( 2017-05), p. 955-961

Type of Medium: Online Resource

ISSN: 0022-2275

URL: Article

DOI: 10.1194/jlr.M075317

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1466675-3

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

2

Online Resource

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Loupatty, Ference J. ; Clayton, Peter T. ; Ruiter, Jos P.N. ; [et al.]

Elsevier BV ; 2007

In: The American Journal of Human Genetics Vol. 80, No. 1 ( 2007-01), p. 195-199

add to watchlist on the watchlist

Details

In: The American Journal of Human Genetics, Elsevier BV, Vol. 80, No. 1 ( 2007-01), p. 195-199

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1086/510725

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2007

detail.hit.zdb_id: 1473813-2

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

3

Online Resource

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A〉G mutation that causes exon skipping

Madsen, Pia Pinholt ; Kibæk, Maria ; Roca, Xavier ; [et al.]

Springer Science and Business Media LLC ; 2006

In: Human Genetics Vol. 118, No. 6 ( 2006-2), p. 680-690

add to watchlist on the watchlist

Details

In: Human Genetics, Springer Science and Business Media LLC, Vol. 118, No. 6 ( 2006-2), p. 680-690

Type of Medium: Online Resource

ISSN: 0340-6717 , 1432-1203

URL: Article

DOI: 10.1007/s00439-005-0070-4

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2006

detail.hit.zdb_id: 1459188-1

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

4

Online Resource

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases

Poll-The, Bwee Tien ; Wanders, Ronald J.A ; Ruiter, Jos P.N ; [et al.]

Elsevier BV ; 2004

In: Molecular Genetics and Metabolism Vol. 81, No. 4 ( 2004-4), p. 295-299

add to watchlist on the watchlist

Details

In: Molecular Genetics and Metabolism, Elsevier BV, Vol. 81, No. 4 ( 2004-4), p. 295-299

Type of Medium: Online Resource

ISSN: 1096-7192

URL: Article

DOI: 10.1016/j.ymgme.2003.11.013

Language: English

Publisher: Elsevier BV

Publication Date: 2004

detail.hit.zdb_id: 1471393-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

5

Online Resource

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

Dercksen, Marli ; Duran, Marinus ; IJlst, Lodewijk ; [et al.]

Elsevier BV ; 2016

In: Molecular Genetics and Metabolism Vol. 119, No. 4 ( 2016-12), p. 307-310

add to watchlist on the watchlist

Details

In: Molecular Genetics and Metabolism, Elsevier BV, Vol. 119, No. 4 ( 2016-12), p. 307-310

Type of Medium: Online Resource

ISSN: 1096-7192

URL: Article

DOI: 10.1016/j.ymgme.2016.10.004

Language: English

Publisher: Elsevier BV

Publication Date: 2016

detail.hit.zdb_id: 1471393-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

6

Online Resource

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Loupatty, Ference J. ; van der Steen, Annemarie ; IJlst, Lodewijk ; [et al.]

Elsevier BV ; 2006

In: Molecular Genetics and Metabolism Vol. 87, No. 3 ( 2006-3), p. 243-248

add to watchlist on the watchlist

Details

In: Molecular Genetics and Metabolism, Elsevier BV, Vol. 87, No. 3 ( 2006-3), p. 243-248

Type of Medium: Online Resource

ISSN: 1096-7192

URL: Article

DOI: 10.1016/j.ymgme.2005.09.019

Language: English

Publisher: Elsevier BV

Publication Date: 2006

detail.hit.zdb_id: 1471393-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

7

Online Resource

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry

van Vlies, Naomi ; Ruiter, Jos P.N. ; Doolaard, Mirjam ; [et al.]

Elsevier BV ; 2007

In: Molecular Genetics and Metabolism Vol. 90, No. 1 ( 2007-1), p. 24-29

add to watchlist on the watchlist

Details

In: Molecular Genetics and Metabolism, Elsevier BV, Vol. 90, No. 1 ( 2007-1), p. 24-29

Type of Medium: Online Resource

ISSN: 1096-7192

URL: Article

DOI: 10.1016/j.ymgme.2006.07.006

Language: English

Publisher: Elsevier BV

Publication Date: 2007

detail.hit.zdb_id: 1471393-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

8

Online Resource

Rosuvastatin Lowers Coenzyme Q10 Levels, but not Mitochondrial Adenosine Triphosphate Synthesis, in Children with Familial Hypercholesterolemia

Avis, Hans J. ; Hargreaves, Ian P. ; Ruiter, Jos P.N. ; [et al.]

Elsevier BV ; 2011

In: The Journal of Pediatrics Vol. 158, No. 3 ( 2011-03), p. 458-462

add to watchlist on the watchlist

Details

In: The Journal of Pediatrics, Elsevier BV, Vol. 158, No. 3 ( 2011-03), p. 458-462

Type of Medium: Online Resource

ISSN: 0022-3476

URL: Article

DOI: 10.1016/j.jpeds.2010.08.015

Language: English

Publisher: Elsevier BV

Publication Date: 2011

detail.hit.zdb_id: 2005245-5

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

9

Online Resource

Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies

Wanders, Ronal J.A. ; Ruiter, Jos P.N. ; Wijburg, Frits A.

Elsevier BV ; 1993

In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Vol. 1181, No. 3 ( 1993-6), p. 219-222

add to watchlist on the watchlist

Details

In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Elsevier BV, Vol. 1181, No. 3 ( 1993-6), p. 219-222

Type of Medium: Online Resource

ISSN: 0925-4439

URL: Article

DOI: 10.1016/0925-4439(93)90024-U

RVK:

WA 15000

Language: English

Publisher: Elsevier BV

Publication Date: 1993

detail.hit.zdb_id: 2209528-7

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

10

Online Resource

Differential effect of valproate and its Δ2- and Δ4-unsaturated metabolites, on the β-oxidation rate of long-chain and medium-chain fatty acids

Silva, Margarida F.B ; Ruiter, Jos P.N ; IJlst, Lodewijk ; [et al.]

Elsevier BV ; 2001

In: Chemico-Biological Interactions Vol. 137, No. 3 ( 2001-09), p. 203-212

add to watchlist on the watchlist

Details

In: Chemico-Biological Interactions, Elsevier BV, Vol. 137, No. 3 ( 2001-09), p. 203-212

Type of Medium: Online Resource

ISSN: 0009-2797

URL: Article

DOI: 10.1016/S0009-2797(01)00234-4

Language: English

Publisher: Elsevier BV

Publication Date: 2001

detail.hit.zdb_id: 1496834-4

SSG: 12

Bookmarklink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Online Resource

Open Access Request

Availability (electronic / print)

BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

Kooperativer Bibliotheksverbund

Berlin Brandenburg