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Resource use and costs of transitioning from pediatric to adult care for patients with chronic kidney disease.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 251, doi. 10.1007/s00467-023-06075-w
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- Publication type:
- Article
Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.
- Published in:
- Nutrients, 2018, v. 10, n. 12, p. 1944, doi. 10.3390/nu10121944
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- Publication type:
- Article
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.
- Published in:
- 2019
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- Publication type:
- journal article
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 12, doi. 10.1038/ejhg.2013.90
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- Publication type:
- Article
Strukturierte Aufklärung und Beratung bei monogen vererbten Stoffwechselkrankheiten.
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- Medizinische Genetik, 2015, v. 27, n. 3, p. 296, doi. 10.1007/s11825-015-0060-4
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- Publication type:
- Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background.
- Published in:
- Wiener Klinische Wochenschrift, 2005, v. 117, n. 15/16, p. 541, doi. 10.1007/s00508-005-0327-x
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- Publication type:
- Article
Long-term follow-up of 114 patients with congenital hyperinsulinism.
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- European Journal of Endocrinology, 2003, v. 149, n. 1, p. 0043
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- Publication type:
- Article
Transition for adolescents with a rare disease: results of a nationwide German project.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02698-2
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- Publication type:
- Article
Dead Metaphor Society? From Opitz to Hoffmannswaldau.
- Published in:
- Neophilologus, 2009, v. 93, n. 2, p. 295, doi. 10.1007/s11061-007-9087-3
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- Publication type:
- Article
A HOLISTIC APPROACH TO THE PATIENTS/FAMILIES WITH INBORN ERRORS OF METABOLISM.
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- Journal of Mother & Child, 2020, v. 24, n. 2, p. 65, doi. 10.34763/jmotherandchild.20202402si.2004.000010
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- Publication type:
- Article
Two Parts Ibsen, One Part American Dream: On Derivation and Originality in Arthur Miller's Death of a Salesman.
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- Orbis Litterarum, 1988, v. 43, n. 3, p. 336, doi. 10.1111/j.1600-0730.1988.tb00881.x
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- Publication type:
- Article
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.
- Published in:
- 2015
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- Publication type:
- journal article
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-167
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- Publication type:
- Article
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
- Published in:
- 2013
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- Publication type:
- journal article
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
- Published in:
- 2011
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- Publication type:
- journal article
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
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- Publication type:
- Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
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- Publication type:
- Article
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1070, doi. 10.1002/jimd.12544
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- Publication type:
- Article
Unlocking the Treatment for PKU Brewin Books.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 282, doi. 10.1002/jimd.12350
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- Publication type:
- Article
Atlas of inherited metabolic diseases (Hardcover and e‐Book).
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 284, doi. 10.1002/jimd.12351
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- Publication type:
- Article
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1162, doi. 10.1002/jimd.12066
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- Publication type:
- Article
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 398, doi. 10.1002/jimd.12049
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- Publication type:
- Article
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 243, doi. 10.1002/jimd.12013
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- Publication type:
- Article
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 93, doi. 10.1002/jimd.12031
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- Publication type:
- Article
On being an editor, reviewer, and author—different sides of the same coin.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 1, doi. 10.1002/jimd.12017
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- Publication type:
- Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 741, doi. 10.1007/s10545-017-0116-5
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- Publication type:
- Article
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 657, doi. 10.1007/s10545-017-0132-5
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- Publication type:
- Article
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
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- Publication type:
- Article
Carla E. M. Hollak and Robin Lachmann (editors) Inherited metabolic disease in adults - A clinical guide.
- Published in:
- 2017
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- Publication type:
- Book Review
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
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- Publication type:
- Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
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- Publication type:
- Article
Impact of age at onset and newborn screening on outcome in organic acidurias.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 341, doi. 10.1007/s10545-015-9907-8
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- Publication type:
- Article
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 231, doi. 10.1007/s10545-015-9887-8
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- Publication type:
- Article
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 219, doi. 10.1007/s10545-015-9901-1
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- Publication type:
- Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7
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- Publication type:
- Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x
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- Publication type:
- Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
- Published in:
- 2015
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- Publication type:
- Erratum
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 763, doi. 10.1007/s10545-014-9676-9
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- Publication type:
- Article
Living with an inborn error of metabolism detected by newborn screening-Parents' perspectives on child development and impact on family life.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 189, doi. 10.1007/s10545-013-9639-6
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- Publication type:
- Article
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 31, doi. 10.1007/s10545-013-9621-3
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- Publication type:
- Article
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 4, p. 635, doi. 10.1007/s10545-013-9600-8
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- Publication type:
- Article
Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 525, doi. 10.1007/s10545-012-9517-7
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- Publication type:
- Article
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 797, doi. 10.1007/s10545-011-9426-1
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- Publication type:
- Article
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 603, doi. 10.1007/s10545-012-9483-0
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- Publication type:
- Article
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 613, doi. 10.1007/s10545-012-9484-z
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- Publication type:
- Article
Diagnosis and management of glutaric aciduria type I - revised recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 677, doi. 10.1007/s10545-011-9289-5
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- Publication type:
- Article
PREFACE.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S69, doi. 10.1007/PL00014386
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- Publication type:
- Article
Survey of national guidelines for the treatment of phenylketonuria.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S70, doi. 10.1007/PL00014385
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- Publication type:
- Article
Development of intelligence in early treated phenylketonuria.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S74, doi. 10.1007/PL00014388
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- Publication type:
- Article