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Showing results for ISSN matching 0141-8955

Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism

JOURNAL ARTICLE published December 2018 in Journal of Inherited Metabolic Disease

Research funded by Dietmar Hopp Stiftung (23011205)

Authors: Sabine Jung‐Klawitter | Thomas Opladen

https://doi.org/10.1007/s10545-018-0225-9 Actions

Tetrahydrobiopterin treatment reduces brain L‐Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice

JOURNAL ARTICLE published July 2018 in Journal of Inherited Metabolic Disease

Authors: Tanja Scherer | Gabriella Allegri | Christineh N. Sarkissian | Ming Ying | Hiu Man Grisch‐Chan | Anahita Rassi | Shelley R. Winn | Cary O. Harding | Aurora Martinez | Beat Thöny

https://doi.org/10.1007/s10545-018-0150-y Actions

Arginine supplementation in four patients with X‐linked creatine transporter defect

JOURNAL ARTICLE published December 2008 in Journal of Inherited Metabolic Disease

Authors: C. Fons | A. Sempere | A. Arias | A. López‐Sala | P. Póo | M. Pineda | A. Mas | M. A. Vilaseca | G. S. Salomons | A. Ribes | R. Artuch | J. Campistol

https://doi.org/10.1007/s10545-008-0902-1 Actions

Biology of neuronal dysfunction in storage disorders

JOURNAL ARTICLE published March 1993 in Journal of Inherited Metabolic Disease

Authors: S. U. Walkley | P. A. March

https://doi.org/10.1007/bf00710266 Actions

Animal models of maple syrup urine disease

JOURNAL ARTICLE published April 2009 in Journal of Inherited Metabolic Disease

Research funded by National Institutes of Health (R43 DK57386,R43 DK57956)

Authors: K. J. Skvorak

https://doi.org/10.1007/s10545-009-1086-z Actions

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Research funded by Shire (IIR‐GBR‐000981)

Authors: Nina Patel | Philippa Mills | James Davison | Maureen Cleary | Paul Gissen | Blerida Banushi | Ivan Doykov | Megan Dorman | Kevin Mills | Wendy E. Heywood

https://doi.org/10.1002/jimd.12166 Actions

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy

JOURNAL ARTICLE published January 2012 in Journal of Inherited Metabolic Disease

Authors: William J. Zinnanti | Jelena Lazovic

https://doi.org/10.1007/s10545-011-9333-5 Actions

LC‐MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies

JOURNAL ARTICLE published September 2020 in Journal of Inherited Metabolic Disease

Authors: Déborah Mathis | Karin Beese | Carmen Rüegg | Barbara Plecko | Martin Hersberger

https://doi.org/10.1002/jimd.12244 Actions

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

JOURNAL ARTICLE published April 2001 in Journal of Inherited Metabolic Disease

Authors: I. Maire

https://doi.org/10.1023/a:1012419823739 Actions

Muscle fiber‐type distribution, fiber‐type‐specific damage, and the Pompe disease phenotype

JOURNAL ARTICLE published September 2013 in Journal of Inherited Metabolic Disease

Authors: L. E. M. den van Berg | M. R. Drost | G. Schaart | J. de Laat | P. A. van Doorn | A. T. van der Ploeg | A. J. J. Reuser

https://doi.org/10.1007/s10545-012-9541-7 Actions

Long term outcome of organic acidurias: Survey of 105 French cases (1967–1983)

JOURNAL ARTICLE published March 1984 in Journal of Inherited Metabolic Disease

Authors: R. Rousson | P. Guibaud

https://doi.org/10.1007/bf03047366 Actions

Clinical and biochemical studies in mucopolysaccharidosis type II carriers

JOURNAL ARTICLE published December 2009 in Journal of Inherited Metabolic Disease

Authors: I. V. D. Schwartz | L. L. C. Pinto | G. Breda | L. Lima | M. G. Ribeiro | J. G. Mota | A. X. Acosta | P. Correia | D. D. G. Horovitz | C. G. G. Porciuncula | E. Lipinski‐Figueiredo | A. C. Fett‐Conte | R. P. Oliveira Sobrinho | D. Y. J. Norato | A. C. Paula | C. A. Kim | A. R. Duarte | R. Boy | S. Leistner‐Segal | M. G. Burin | R. Giugliani

https://doi.org/10.1007/s10545-009-1275-9 Actions

Galactosaemia presenting as congenital pseudoafibrinogenaemia

JOURNAL ARTICLE published December 1999 in Journal of Inherited Metabolic Disease

Authors: M. Ruiz | S. Jover | M. Armas | M. R. Duque | C. Santana | M. L. Girós | M. D. Boleda

https://doi.org/10.1023/a:1005660011709 Actions

Editorial: Mitochondrial medicine special issue

JOURNAL ARTICLE published March 2021 in Journal of Inherited Metabolic Disease

Authors: Patrick F. Chinnery | Marni J. Falk | Vamsi K. Mootha | Shamima Rahman

https://doi.org/10.1002/jimd.12374 Actions

Oxidative stress in Phenylketonuria: future directions

JOURNAL ARTICLE published May 2012 in Journal of Inherited Metabolic Disease

Authors: Júlio César Rocha | Maria João Martins

https://doi.org/10.1007/s10545-011-9417-2 Actions

A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality

JOURNAL ARTICLE published September 2019 in Journal of Inherited Metabolic Disease

Research funded by National Center for Advancing Translational Sciences (FP00096621) | National Institutes of Health (S10 RR027506‐01)

Authors: Bijina Balakrishnan | Jan Verheijen | Arielle Lupo | Kimiyo Raymond | Coleman Turgeon | Yueqin Yang | Kandis L. Carter | Kevin J. Whitehead | Tamas Kozicz | Eva Morava | Kent Lai

https://doi.org/10.1002/jimd.12110 Actions

JOURNAL ISSUE published September 2019 in Journal of Inherited Metabolic Disease

https://doi.org/10.1002/jimd.v42.s1 Actions

The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha‐galactosidase gene is associated with decreased enzyme expression—Evidence from a family study

JOURNAL ARTICLE published December 2008 in Journal of Inherited Metabolic Disease

Authors: J. P. Oliveira | S. Ferreira | C. Reguenga | F. Carvalho | J.‐E. Månsson

https://doi.org/10.1007/s10545-008-0972-0 Actions

The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose‐1‐phosphate uridyltransferase deficiency

JOURNAL ARTICLE published January 1993 in Journal of Inherited Metabolic Disease

Authors: G. T. Berry | M. Palmieri | K. C. Gross | P. B. Acosta | J. A. Henstenburg | A. Mazur | R. Reynolds | S. Segal

https://doi.org/10.1007/bf00711320 Actions

Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers'

JOURNAL ARTICLE published November 2004 in Journal of Inherited Metabolic Disease

Authors: W. B. Hanley | C. Azen | R. Koch | K. Michals‐Matalon | R. Matalon | B. Rouse | F. Trefz | S. Waisbren | F. de la Cruz

https://doi.org/10.1023/b:boli.0000045758.86492.54 Actions
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