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Showing results for ISSN matching 0141-8955

Peer review fraud—it's not big and it's not clever

JOURNAL ARTICLE published January 2016 in Journal of Inherited Metabolic Disease

Authors: Shamima Rahman | Matthias R. Baumgartner | Eva Morava | Marc Patterson | Verena Peters | Johannes Zschocke

https://doi.org/10.1007/s10545-015-9905-x Actions

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

JOURNAL ARTICLE published May 1999 in Journal of Inherited Metabolic Disease

Authors: J. Gärtner | N. Preuss | U. Brosius | M. Biermanns

https://doi.org/10.1023/a:1005599903632 Actions

Issue Information

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

https://doi.org/10.1002/jimd.12114 Actions

Bone mineral density is within normal range in most adult phenylketonuria patients

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Authors: Charlotte M. A. Lubout | Francisco Arrieta Blanco | Katarzyna Bartosiewicz | François Feillet | Maria Gizewska | Carla Hollak | Johanna H. van der Lee | François Maillot | Karolina M. Stepien | Margreet A. E. M. Wagenmakers | Mendy M. Welsink‐Karssies | Francjan J. van Spronsen | Annet M. Bosch

https://doi.org/10.1002/jimd.12177 Actions

Concerning “Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies” by Marcé‐Grau et al

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Authors: GianPietro Sechi

https://doi.org/10.1002/jimd.12154 Actions

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

JOURNAL ARTICLE published 3 March 2024 in Journal of Inherited Metabolic Disease

Authors: François Feillet | Can Ficicioglu | Florian B. Lagler | Nicola Longo | Ania C. Muntau | Alberto Burlina | Friedrich K. Trefz | Francjan J. van Spronsen | Jean‐Baptiste Arnoux | Kristin Lindstrom | Joshua Lilienstein | Gillian E. Clague | Richard Rowell | Barbara K. Burton | the KAMPER and PKUDOS investigators

https://doi.org/10.1002/jimd.12724 Actions

Perinatal Diagnosis of Type 1c Glycogen Storage Disease

JOURNAL ARTICLE published April 1989 in Journal of Inherited Metabolic Disease

Authors: A. Burchell | I. D. Waddell | L. Stewart | R. Hume

https://doi.org/10.1007/bf03335409 Actions

Abnormalities of human sex determination

JOURNAL ARTICLE published July 1992 in Journal of Inherited Metabolic Disease

Authors: M. A. Ferguson‐Smith

https://doi.org/10.1007/bf01799610 Actions

Pathophysiology of fatty acid oxidation disorders

JOURNAL ARTICLE published October 2010 in Journal of Inherited Metabolic Disease

Authors: M. J. Bennett

https://doi.org/10.1007/s10545-010-9170-y Actions

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

JOURNAL ARTICLE published July 2016 in Journal of Inherited Metabolic Disease

Authors: Bregje Jaeger | Annet M. Bosch

https://doi.org/10.1007/s10545-016-9924-2 Actions

The effectiveness of enzyme replacement therapy for juvenile‐onset Pompe disease: A systematic review

JOURNAL ARTICLE published January 2019 in Journal of Inherited Metabolic Disease

Authors: Joanne Milverton | Skye Newton | Tracy Merlin

https://doi.org/10.1002/jimd.12027 Actions

Phenylketonuria, co‐morbidity, and ageing: A review

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Authors: Emma R.L.C. Vardy | Anita MacDonald | Suzanne Ford | Denise L. Hofman

https://doi.org/10.1002/jimd.12186 Actions

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases

JOURNAL ARTICLE published May 2020 in Journal of Inherited Metabolic Disease

Authors: Constantinos Papadopoulos | Karim Wahbi | Anthony Behin | Wulfran Bougouin | Tanya Stojkovic | Sarah Leonard‐Louis | Nawal Berber | Anne Lombès | Denis Duboc | Claude Jardel | Bruno Eymard | Pascal Laforêt

https://doi.org/10.1002/jimd.12185 Actions

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria

JOURNAL ARTICLE published July 2020 in Journal of Inherited Metabolic Disease

Research funded by FP7 Ideas: European Research Council (304985)

Authors: Lakshminarayan R. Ranganath | Anna M. Milan | Andrew T. Hughes | Milad Khedr | Andrew S. Davison | Ella Shweihdi | Brendan P. Norman | Juliette H. Hughes | Helen Bygott | Emily Luangrath | Richard Fitzgerald | Eftychia E. Psarelli | Christa van Kan | Dinny Laan | Birgitta Olsson | Mattias Rudebeck | Louise Mankowitz | Nicolas Sireau | Jean‐Baptiste Arnoux | Kim‐Hanh Le Quan Sang | Jonathan C. Jarvis | Federica Genovese | Daniela Braconi | Annalisa Santucci | Andrea Zatkova | Helena Glasova | Roman Stančík | Richard Imrich | Nicholas P. Rhodes | James A. Gallagher

https://doi.org/10.1002/jimd.12181 Actions

A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

JOURNAL ARTICLE published September 2019 in Journal of Inherited Metabolic Disease

Authors: Emmalie A. Jager | Myrthe M. Kuijpers | Annet M. Bosch | Margot F. Mulder | Estela R. Gozalbo | Gepke Visser | Maaike de Vries | Monique Williams | Hans R. Waterham | Francjan J. van Spronsen | Peter C. J. I. Schielen | Terry G. J. Derks

https://doi.org/10.1002/jimd.12102 Actions

Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential

JOURNAL ARTICLE published April 2006 in Journal of Inherited Metabolic Disease

Authors: Charles R. Roe | Fanny Mochel

https://doi.org/10.1007/s10545-006-0290-3 Actions

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

JOURNAL ARTICLE published May 2023 in Journal of Inherited Metabolic Disease

Authors: Nikolas Boy | Chris Mühlhausen | Esther M. Maier | Diana Ballhausen | Matthias R. Baumgartner | Skadi Beblo | Peter Burgard | Kimberly A. Chapman | Dries Dobbelaere | Jana Heringer‐Seifert | Sandra Fleissner | Karina Grohmann‐Held | Gabriele Hahn | Inga Harting | Georg F. Hoffmann | Frank Jochum | Daniela Karall | Vassiliki Konstantopoulous | Michael B. Krawinkel | Martin Lindner | E. M. Charlotte Märtner | Jean‐Marc Nuoffer | Jürgen G. Okun | Barbara Plecko | Roland Posset | Katja Sahm | Sabine Scholl‐Bürgi | Eva Thimm | Magdalena Walter | Monique Williams | Stephan vom Dahl | Athanasia Ziagaki | Johannes Zschocke | Stefan Kölker

https://doi.org/10.1002/jimd.12566 Actions

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

JOURNAL ARTICLE published March 2022 in Journal of Inherited Metabolic Disease

Authors: Gabriele Ramoser | Federica Caferri | Bernhard Radlinger | Michaela Brunner‐Krainz | Sybille Herbst | Martina Huemer | Miriam Hufgard‐Leitner | Susanne G. Kircher | Vassiliki Konstantopoulou | Wolfgang Löscher | Dorothea Möslinger | Barbara Plecko | Johannes Spenger | Thomas Stulnig | Gere Sunder‐Plassmann | Saskia Wortmann | Sabine Scholl‐Bürgi | Daniela Karall | Austrian IMD Registry Group

https://doi.org/10.1002/jimd.12442 Actions

Exploring genotype–phenotype correlations in glutaric aciduria type 1

JOURNAL ARTICLE published May 2023 in Journal of Inherited Metabolic Disease

Research funded by Departament de Salut, Generalitat de Catalunya (SGR 1428) | Mutua Madrileña Foundation (2019/0117)

Authors: Imke M. E. Schuurmans | Bianca Dimitrov | Julian Schröter | Antonia Ribes | Rubén Pérez de la Fuente | Berta Zamora | Clara D. M. van Karnebeek | Stefan Kölker | Alejandro Garanto

https://doi.org/10.1002/jimd.12608 Actions

Clinical presentation and proteomic signature of patients with TANGO2 mutations

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Research funded by French Muscular Dystrophy Association (21644) | Generalitat de Catalunya (2017SGR1206) | European Research Council (309548) | Instituto de Salud Carlos III (PI17‐01286,PI17/00109,PI16/00579,PI16/01048,PI14/00581,CP09/00011) | Medical Research Council Canada (MR/N025431/1) | University of Kentucky (G0800674) | Newton Fund (MR/N027302/1)

Authors: Nadja Mingirulli | Angela Pyle | Denisa Hathazi | Charlotte L. Alston | Nicolai Kohlschmidt | Gina O'Grady | Leigh Waddell | Frances Evesson | Sandra B. T. Cooper | Christian Turner | Jennifer Duff | Ana Topf | Delia Yubero | Cristina Jou | Andrés Nascimento | Carlos Ortez | Angels García‐Cazorla | Claudia Gross | Maria O'Callaghan | Saikat Santra | Maryanne A. Preece | Michael Champion | Sergei Korenev | Efsthatia Chronopoulou | Majumdar Anirban | Germaine Pierre | Daniel McArthur | Kyle Thompson | Placido Navas | Antonia Ribes | Frederic Tort | Agatha Schlüter | Aurora Pujol | Raquel Montero | Georgia Sarquella | Hanns Lochmüller | Cecilia Jiménez‐Mallebrera | Robert W. Taylor | Rafael Artuch | Janbernd Kirschner | Sarah C. Grünert | Andreas Roos | Rita Horvath

https://doi.org/10.1002/jimd.12156 Actions
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