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Article
Open AccessResource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders
A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, proces...
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Article
Open AccessResource use and costs of transitioning from pediatric to adult care for patients with chronic kidney disease
The structured transition of adolescents and young adults with chronic kidney disease (CKD) from pediatric to adult care is important, but data on the time and resources required for the necessary components o...
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Article
Open AccessExome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases.
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Article
Open AccessVitamin-B12-Mangel im Neugeborenen- und Säuglingsalter – Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas
Ein Vitamin‑B12-Mangel ist bei Neugeborenen meist bedingt durch einen mütterlichen Vitamin‑B12-Mangel. Beim Kind führt ein schwerer, unerkannter Vitamin‑B12-Mangel zu irreversiblen neurologischen Schädigungen und...
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Article
Open AccessProspective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.
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Article
Open AccessTransition for adolescents with a rare disease: results of a nationwide German project
The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the conte...
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Article
Open AccessErratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)
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Article
Open AccessSudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial β-oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome ...
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Article
Neugeborenenscreeningprogramm für die spinale Muskelatrophie
Zum Ende des Jahres 2021 ist die Einführung eines flächendeckenden Neugeborenenscreeningprogramms für die spinale Muskelatrophie (SMA), spezifisch 5q-SMA, in Deutschland geplant, da inzwischen mehrere gezielte...
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Article
Open AccessRobust and durable serological response following pediatric SARS-CoV-2 infection
The quality and persistence of children’s humoral immune response following SARS-CoV-2 infection remains largely unknown but will be crucial to guide pediatric SARS-CoV-2 vaccination programs. Here, we examine...
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Article
Open AccessEin strukturierter Versorgungspfad von der Pädiatrie in die Erwachsenenmedizin für Jugendliche und junge Erwachsene mit einer seltenen Erkrankung
Die erfolgreiche Organisation und Umsetzung des Übergangs von Jugendlichen und jungen Erwachsenen mit einer chronischen seltenen Erkrankung aus der Pädiatrie in eine Versorgungsform (Transition) und Versorgung...
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Chapter
Disorders of Monoamine Metabolism
Neurotransmitters include the catecholamines (dopamine, norepinephrine, and epinephrine) and the indoleamines (serotonin and melatonin). They are chemical messengers, which mediate, amplify, or modulate synapt...
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Chapter
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Twelve inborn errors of metabolism are described in this chapter. Glutaric aciduria type I, L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria (type I and II), D-2−/L-2-hydroxyglutaric aciduria, N-acet...
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Article
Open AccessDer klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE
Seltene Erkrankungen (SE) manifestieren sich ganz überwiegend im Kindes- und Jugendalter, sind heterogen, multisystemisch, haben meist einen chronischen Verlauf und stellen eine große Herausforderung für alle ...
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Article
Open AccessAn Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, ...
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Article
Open AccessNBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study...
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Article
Open Access1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers render...
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Article
Open AccessPublisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
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Article
Open AccessThe biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This na...
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Article
Open AccessInsights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardi...
