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Showing results for ISSN matching 0141-8955

Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism

JOURNAL ARTICLE published September 2023 in Journal of Inherited Metabolic Disease

Authors: Martina Huemer | Florin Bösch

https://doi.org/10.1002/jimd.12622 Actions

Expanded newborn screening: social and ethical issues

JOURNAL ARTICLE published October 2010 in Journal of Inherited Metabolic Disease

Authors: Jean‐Louis Dhondt

https://doi.org/10.1007/s10545-010-9138-y Actions

Effectiveness of enzyme replacement therapy in adults with late‐onset Pompe disease: results from the NCS‐LSD cohort study

JOURNAL ARTICLE published November 2014 in Journal of Inherited Metabolic Disease

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

https://doi.org/10.1007/s10545-014-9728-1 Actions

Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA

JOURNAL ARTICLE published July 2003 in Journal of Inherited Metabolic Disease

Authors: C. Vives‐Bauza | M. Del Toro | A. Solano | J. Montoya | A. L. Andreu | M. Roig

https://doi.org/10.1023/a:1025133629685 Actions

Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

JOURNAL ARTICLE published June 2008 in Journal of Inherited Metabolic Disease

Authors: T. M. Cox | J. M. F. G. Aerts | N. Belmatoug | M. D. Cappellini | S. vom Dahl | J. Goldblatt | G. A. Grabowski | C. E. M. Hollak | P. Hwu | M. Maas | A. M. Martins | P. K. Mistry | G. M. Pastores | A. Tylki‐Szymanska | J. Yee | N. Weinreb

https://doi.org/10.1007/s10545-008-0779-z Actions

Correction of sphingomyelinase deficiency in Niemann‐Pick type C fibroblasts by removal of lipoprotein fraction from culture media

JOURNAL ARTICLE published June 1989 in Journal of Inherited Metabolic Disease

Authors: G. H. Thomas | C. M. Tuck‐Muller | C. S. Miller | L. W. Reynolds

https://doi.org/10.1007/bf01800716 Actions

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease

Authors: Mona M. Makhamreh | Naiga Cottingham | Carlos R. Ferreira | Seth Berger | Huda B. Al‐Kouatly

https://doi.org/10.1002/jimd.12162 Actions

Unique presentation of cutis laxa with Leigh‐like syndrome due to ECHS1 deficiency

JOURNAL ARTICLE published September 2017 in Journal of Inherited Metabolic Disease

Research funded by NHMRC project grant (1026891) | Netherlands Organisation for Scientific Research (017.008.052)

Authors: S. Balasubramaniam | L. G. Riley | D. Bratkovic | D. Ketteridge | N. Manton | M. J. Cowley | V. Gayevskiy | T. Roscioli | M. Mohamed | T. Gardeitchik | E. Morava | J. Christodoulou

https://doi.org/10.1007/s10545-017-0036-4 Actions

Structural basis of fumarate hydratase deficiency

JOURNAL ARTICLE published June 2011 in Journal of Inherited Metabolic Disease

Authors: Sarah Picaud | Kathryn L. Kavanagh | Wyatt W. Yue | Wen Hwa Lee | Susanne Muller‐Knapp | Opher Gileadi | James Sacchettini | Udo Oppermann

https://doi.org/10.1007/s10545-011-9294-8 Actions

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

JOURNAL ARTICLE published September 2019 in Journal of Inherited Metabolic Disease

Research funded by Qatar National Research Fund (7‐355‐3‐088)

Authors: Nader Al‐Dewik | Alaa Ali | Yassmin Mahmoud | Noora Shahbeck | Rehab Ali | Laila Mahmoud | Mariam Al‐Mureikhi | Fatma Al‐Mesaifri | Sara Musa | Karen El‐Akouri | Mariam Almulla | Reem Al Saadi | Gheyath K. Nasrallah | Muthanna Samara | Ghassan Abdoh | Hilal Al Rifai | Johannes Häberle | Beat Thöny | Warren Kruger | Henk J. Blom | Tawfeg Ben‐Omran

https://doi.org/10.1002/jimd.12099 Actions

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

JOURNAL ARTICLE published May 2019 in Journal of Inherited Metabolic Disease

Authors: Jeannette C. Bleeker | Irene L. Kok | Sacha Ferdinandusse | W. Ludo van der Pol | Inge Cuppen | Annet M. Bosch | Mirjam Langeveld | Terry G. J. Derks | Monique Williams | Maaike de Vries | Margot F. Mulder | Estela R. Gozalbo | Monique G. M. de Sain‐van der Velden | Alexander J. Rennings | Peter J. C. I. Schielen | Eugenie Dekkers | Riekelt H. Houtkooper | Hans R. Waterham | Mia L. Pras‐Raves | Ronald J. A. Wanders | Peter M. van Hasselt | Marja Schoenmakers | Frits A. Wijburg | Gepke Visser

https://doi.org/10.1002/jimd.12075 Actions

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

JOURNAL ARTICLE published April 2008 in Journal of Inherited Metabolic Disease

Authors: F. Djouadi | J. Bastin

https://doi.org/10.1007/s10545-008-0844-7 Actions

3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency: Initial presentation in a young adult

JOURNAL ARTICLE published December 2009 in Journal of Inherited Metabolic Disease

Authors: S. Reimão | C. Morgado | I. T. Almeida | M. Silva | H. Corte Real | J. Campos

https://doi.org/10.1007/s10545-009-1048-5 Actions

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

JOURNAL ARTICLE published January 2012 in Journal of Inherited Metabolic Disease

Research funded by Ministry of Health, State of Israel (5914)

Authors: Ann Saada | Shimon Edvardson | Avraham Shaag | Wendy K. Chung | Reeval Segel | Chaya Miller | Chaim Jalas | Orly Elpeleg

https://doi.org/10.1007/s10545-011-9348-y Actions

Antibiotic interference in urinary thiosulphate measurements

JOURNAL ARTICLE published January 1994 in Journal of Inherited Metabolic Disease

Authors: G. Mann | J. M. Kirk

https://doi.org/10.1007/bf00735412 Actions

Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

JOURNAL ARTICLE published May 1999 in Journal of Inherited Metabolic Disease

Authors: C. O. Harding | M. B. Gillingham | S. C. van Calcar | J. A. Wolff | J. N. Verhoeve | M. D. Mills

https://doi.org/10.1023/a:1005502626406 Actions

Author response: A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome

JOURNAL ARTICLE published January 2021 in Journal of Inherited Metabolic Disease

Authors: Guido Primiano | Serenella Servidei

https://doi.org/10.1002/jimd.12333 Actions

View from inside: Rare diseases in the times of COVID19

JOURNAL ARTICLE published January 2021 in Journal of Inherited Metabolic Disease

Authors: Jerry Vockley

https://doi.org/10.1002/jimd.12334 Actions

A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

JOURNAL ARTICLE published November 2022 in Journal of Inherited Metabolic Disease

Authors: Quinton S. Katler | Karolina M. Stepien | Nathan Paull | Sneh Patel | Michael Adams | Mehmet Cihan Balci | Gerard T. Berry | Annet M. Bosch | Angela DeLaO | Didem Demirbas | Julianna Edman | Can Ficicioglu | Melanie Goff | Stephanie Hacker | Ina Knerr | Kristen Lancaster | Hong Li | Bryce A. Mendelsohn | Brandi Nichols | Wladimir Bocca Vieira de Rezende Pinto | Júlio César Rocha | M. Estela Rubio‐Gozalbo | Michael Saad‐Naguib | Sabine Scholl‐Buergi | Sarah Searcy | Paulo Victor Sgobbi de Souza | Angela Wittenauer | Judith L. Fridovich‐Keil

https://doi.org/10.1002/jimd.12556 Actions

Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)

JOURNAL ARTICLE published November 2022 in Journal of Inherited Metabolic Disease

Authors: Stavroula J. Theodorou | Daphne J. Theodorou

https://doi.org/10.1002/jimd.12559 Actions
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