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Showing results for ISSN matching 0141-8955

Neurometabolic hereditary diseases of adults

JOURNAL ARTICLE published March 2019 in Journal of Inherited Metabolic Disease

Authors: Georg F. Hoffmann

https://doi.org/10.1002/jimd.12074 Actions

Lipid biomarkers of oxidative stress in a genetic mouse model of Smith‐Lemli‐Opitz syndrome

JOURNAL ARTICLE published January 2013 in Journal of Inherited Metabolic Disease

Research funded by National Institutes of Health (ES013125,HD064727,MH079299)

Authors: Zeljka Korade | Libin Xu | Karoly Mirnics | Ned A. Porter

https://doi.org/10.1007/s10545-012-9504-z Actions

Fetal and neonatal bile acid synthesis and metabolism — Clinical implications

JOURNAL ARTICLE published July 1991 in Journal of Inherited Metabolic Disease

Authors: W. F. Balistreri

https://doi.org/10.1007/bf01797918 Actions

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

JOURNAL ARTICLE published September 2018 in Journal of Inherited Metabolic Disease

Authors: Sandra Sirrs | Fady Hannah‐Shmouni | Stephen Nantel | James Neuberger | Eric M. Yoshida

https://doi.org/10.1007/s10545-018-0141-z Actions

Further analysis of the disturbed adrenocortical function in the cerebro‐hepato‐renal syndrome of zellweger

JOURNAL ARTICLE published December 1989 in Journal of Inherited Metabolic Disease

Authors: L. Govaerts | W. G. Sippell | L. Monnens

https://doi.org/10.1007/bf01802037 Actions

Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum

JOURNAL ARTICLE published December 1999 in Journal of Inherited Metabolic Disease

Authors: E. J. Quackenbush | K. H. Kraemer | W. A. Gahl | V. Schirch | D. A. H. Whiteman | K. Levine | H. L. Levy

https://doi.org/10.1023/a:1005691424004 Actions

Multicompartment analysis of protein‐restricted phenylketonuric mice reveals amino acid imbalances in brain

JOURNAL ARTICLE published March 2017 in Journal of Inherited Metabolic Disease

Authors: Kara R. Vogel | Erland Arning | Teodoro Bottiglieri | K. Michael Gibson

https://doi.org/10.1007/s10545-016-9984-3 Actions

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding

JOURNAL ARTICLE published May 2021 in Journal of Inherited Metabolic Disease

Authors: Anna Sidorina | Giulio Catesini | Stefano Levi Mortera | Valeria Marzano | Lorenza Putignani | Sara Boenzi | Roberta Taurisano | Matteo Garibaldi | Federica Deodato | Carlo Dionisi‐Vici

https://doi.org/10.1002/jimd.12344 Actions

Determination of cystathionine beta‐synthase activity in human plasma by LC‐MS/MS: potential use in diagnosis of CBS deficiency

JOURNAL ARTICLE published February 2011 in Journal of Inherited Metabolic Disease

Research funded by Ministerstvo Zdravotnictví Ceské Republiky (MZ0VFN2005)

Authors: Jakub Krijt | Jana Kopecká | Aleš Hnízda | Stuart Moat | Leo A. J. Kluijtmans | Philip Mayne | Viktor Kožich

https://doi.org/10.1007/s10545-010-9178-3 Actions

Experience with the treatment of argininosuccinic aciduria during pregnancy

JOURNAL ARTICLE published December 2009 in Journal of Inherited Metabolic Disease

Authors: L. Reid | É. Perreault | G. Lafrance | J. T. R. Clarke

https://doi.org/10.1007/s10545-009-1145-5 Actions

Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

JOURNAL ARTICLE published November 2007 in Journal of Inherited Metabolic Disease

Authors: C. F. Morel | A. Gassas | J. Doyle | J. T. R. Clarke

https://doi.org/10.1007/s10545-007-0700-1 Actions

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling

JOURNAL ARTICLE published June 1983 in Journal of Inherited Metabolic Disease

Authors: A. Tsuchiyama | K. Oyanagi | S. Hirano | N. Tachi | H. Sogawa | K. Wagatsuma | T. Nakao | S. Tsugawa | Y. Kawamura

https://doi.org/10.1007/bf01800730 Actions

Acute hereditary tyrosinaemia type I: Clinical, biochemical and haematological studies in twins

JOURNAL ARTICLE published December 1981 in Journal of Inherited Metabolic Disease

Authors: R. G. F. Gray | A. D. Patrick | F. E. Preston | M. F. Whitfield

https://doi.org/10.1007/bf02263580 Actions

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

JOURNAL ARTICLE published November 2012 in Journal of Inherited Metabolic Disease

Authors: Patricia P. Jumbo‐Lucioni | Kathryn Garber | John Kiel | Ivo Baric | Gerard T. Berry | Annet Bosch | Alberto Burlina | Ana Chiesa | Maria Luz Couce Pico | Sylvia C. Estrada | Howard Henderson | Nancy Leslie | Nicola Longo | Andrew A. M. Morris | Carlett Ramirez‐Farias | Susanne Scheweitzer‐Krantz | Catherine Lynn T. Silao | Marcela Vela‐Amieva | Susan Waisbren | Judith L. Fridovich‐Keil

https://doi.org/10.1007/s10545-012-9477-y Actions

Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

JOURNAL ARTICLE published September 2005 in Journal of Inherited Metabolic Disease

Authors: M. A. Cleary | L. Dorland | T. J. de Koning | B. T. Poll‐The | M. Duran | R. Mandell | V. E. Shih | R. Berger | S. E. Olpin | G. T. N. Besley

https://doi.org/10.1007/s10545-005-0074-1 Actions

Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

JOURNAL ARTICLE published September 1997 in Journal of Inherited Metabolic Disease

Authors: S.E. Olpin | J.R. Bonham | M. Downing | N.J. Manning | R.J. Pollitt | M.J. Sharrard | M.S. Tanner

https://doi.org/10.1023/a:1005343013873 Actions

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

JOURNAL ARTICLE published July 2016 in Journal of Inherited Metabolic Disease

Authors: Sacha Ferdinandusse | Merel S. Ebberink | Frédéric M. Vaz | Hans R. Waterham | Ronald J. A. Wanders

https://doi.org/10.1007/s10545-016-9922-4 Actions

Carbohydrate‐deficient transferrin values in neonatal and umbilical cord blood

JOURNAL ARTICLE published March 1996 in Journal of Inherited Metabolic Disease

Authors: J. van Pelt | J. A. Bakker | M. H. Velmans | L. J. M. Spaapen

https://doi.org/10.1007/bf01799443 Actions

Long‐term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS‐LSD cohort study

JOURNAL ARTICLE published November 2014 in Journal of Inherited Metabolic Disease

Authors: L. J. Anderson | K. M. Wyatt | W. Henley | V. Nikolaou | S. Waldek | D. A. Hughes | G. M. Pastores | S. Logan

https://doi.org/10.1007/s10545-014-9717-4 Actions

Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease

JOURNAL ARTICLE published November 2012 in Journal of Inherited Metabolic Disease

Authors: D. Marchesan | T. M. Cox | P. B. Deegan

https://doi.org/10.1007/s10545-012-9472-3 Actions
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