Search Results - "Mulder MF"

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Authors: Veldman A Sikkema-Raddatz B Derks TGJ et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2024 Dec 28; Vol. 11 (1). Date of Electronic Publication: 2024 Dec 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Authors: Veldman A Kiewiet MBG Westra D et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2023 Oct 11; Vol. 9 (4). Date of Electronic Publication: 2023 Oct 11.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Authors: Stroek K Boelen A Bouva MJ et al.

Source: JIMD reports [JIMD Rep] 2020 May 13; Vol. 54 (1), pp. 68-78. Date of Electronic Publication: 2020 May 13 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Authors: Haijes HA Molema F Langeveld M et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 May; Vol. 43 (3), pp. 424-437. Date of Electronic Publication: 2019 Dec 22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

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

Authors: Jager EA Kuijpers MM Bosch AM et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 890-897. Date of Electronic Publication: 2019 May 16.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

The etiological evaluation of sensorineural hearing loss in children.

Authors: van Beeck Calkoen EA Engel MSD van de Kamp JM et al.

Source: European journal of pediatrics [Eur J Pediatr] 2019 Aug; Vol. 178 (8), pp. 1195-1205. Date of Electronic Publication: 2019 May 31.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

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

Authors: Bleeker JC Kok IL Ferdinandusse S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 414-423. Date of Electronic Publication: 2019 Apr 08.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Authors: Bleeker JC Kok IL Ferdinandusse S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 159-168.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

Authors: Williams M Valayannopoulos V Altassan R et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 147-158.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Authors: Fuchs SA Schene IF Kok G et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 2024.

Publication Type: Published Erratum

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome.

Authors: Molema F Haijes HA Janssen MC et al.

Source: Clinical nutrition (Edinburgh, Scotland) [Clin Nutr] 2021 May; Vol. 40 (5), pp. 3622-3630. Date of Electronic Publication: 2020 Dec 25.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 8309603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1983 (Electronic) Linking ISSN: 02615614 NLM ISO Abbreviation: Clin Nutr Subsets: MEDLINE

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

Authors: Brands MM Güngör D van den Hout JM et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Mar; Vol. 38 (2), pp. 323-31. Date of Electronic Publication: 2014 Jul 22.

Publication Type: Comparative Study; Journal Article; Observational Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).

Authors: de Ruijter J Broere L Mulder MF et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2014 May; Vol. 37 (3), pp. 447-54. Date of Electronic Publication: 2013 Oct 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

A case of tubulointerstitial nephritis in a patient with an influenza H1N1 infection.

Authors: Ashtiani N Mulder MF van Wijk JA et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2012 Oct; Vol. 27 (10), pp. 1985-7. Date of Electronic Publication: 2012 Jun 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Nephrological abnormalities in patients with transaldolase deficiency.

Authors: Loeffen YG Biebuyck N Wamelink MM et al.

Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2012 Aug; Vol. 27 (8), pp. 3224-7. Date of Electronic Publication: 2012 Apr 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.

Authors: Touw CM Smit GP de Vries M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 May 25; Vol. 7, pp. 30. Date of Electronic Publication: 2012 May 25.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.

Authors: Sie SD de Jonge RC Blom HJ et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2010 Dec; Vol. 33 Suppl 3, pp. S401-7. Date of Electronic Publication: 2010 Sep 24.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Authors: Alders M Hogan BM Gjini E et al.

Source: Nature genetics [Nat Genet] 2009 Dec; Vol. 41 (12), pp. 1272-4.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Clearance of maternal leukaemic cells in a neonate.

Authors: van der Velden VH Willemse MJ Mulder MF et al.

Source: British journal of haematology [Br J Haematol] 2001 Jul; Vol. 114 (1), pp. 104-6.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print Cited Medium: Print ISSN: 0007-1048 (Print) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Authors: Fuchs SA Schene IF Kok G et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Feb; Vol. 21 (2), pp. 319-330. Date of Electronic Publication: 2018 Jun 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE