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Acceptability of Multiple Uncoated Minitablets in Infants and Toddlers: A Randomized Controlled Trial

The Journal of pediatrics, 2018-10, Vol.201, p.202-207.e1

2018

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Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

Orphanet journal of rare diseases, 2015-11, Vol.10 (1), p.150-150, Article 150

2015

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Late-Onset Group B Streptococcal Meningitis Has Cerebrovascular Complications

The Journal of pediatrics, 2015-05, Vol.166 (5), p.1187-1192.e1

2015

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Conjugated bilirubin triggers anemia by inducing erythrocyte death

Hepatology (Baltimore, Md.), 2015-01, Vol.61 (1), p.275-284

2015

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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.346-354

2016

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Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1270

2024

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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

American journal of human genetics, 2016-10, Vol.99 (4), p.894-902

2016

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Aberrant plasma IL-7 and soluble IL-7 receptor levels indicate impaired T-cell response to IL-7 in human tuberculosis

PLoS pathogens, 2017-06, Vol.13 (6), p.e1006425-e1006425

2017

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Decreased expression of miR-21, miR-26a, miR-29a, and miR-142-3p in CD4⁺ T cells and peripheral blood from tuberculosis patients

PloS one, 2013-04, Vol.8 (4), p.e61609-e61609

2013

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Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism

Frontiers in endocrinology (Lausanne), 2020-11, Vol.11, p.580642-580642

2020

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Memory B-cells are enriched in the blood of patients with acute Buruli ulcer disease: a prospective observational study

BMC infectious diseases, 2023-06, Vol.23 (1), p.393-393, Article 393

2023

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Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

International journal of molecular sciences, 2022-07, Vol.23 (15), p.8097

2022

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Protecting against brain damage by improving treatment in neonates with hypoglycaemia: ProBrain-D—a study protocol of a prospective longitudinal study

BMJ open, 2022-08, Vol.12 (8), p.e063009-e063009

2022

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Neugeborenes am 4. Lebenstag/m, Trinkschwäche, Apathie und Somnolenz: Vorbereitung auf die Facharztprüfung: Fall 6

Monatsschrift Kinderheilkunde, 2021-09, Vol.169 (Suppl 4), p.231-236

2021

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Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

Journal of molecular medicine (Berlin, Germany), 2021-08, Vol.99 (8), p.1173-1173

2021

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A novel mycobacterial In Vitro infection assay identifies differences of induced macrophage apoptosis between CD4+ and CD8+ T cells

PloS one, 2017-02, Vol.12 (2), p.e0171817-e0171817

2017

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Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.108-108, Article 108

2017

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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

Pediatrics (Evanston), 2003-06, Vol.111 (6 Pt 1), p.1399

2003

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Aspects of Newborn Screening in Isovaleric Acidemia

International journal of neonatal screening, 2018-03, Vol.4 (1), p.7-7

2018

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Bile Acid-Induced Suicidal Erythrocyte Death

Cellular physiology and biochemistry, 2016-04, Vol.38 (4), p.1500-1509

2016

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Osmotic regulation of hepatic betaine metabolism

American journal of physiology: Gastrointestinal and liver physiology, 2013-05, Vol.304 (9), p.G835-G846

2013

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"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports

BMC pediatrics, 2018-01, Vol.18 (1), p.6-6, Article 6

2018

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CD4 + T-Cells With High Common γ Chain Expression and Disturbed Cytokine Production Are Enriched in Children With Type-1 Diabetes

Frontiers in immunology, 2019-04, Vol.10, p.820-820

2019

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Rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients

PloS one, 2015-03, Vol.10 (3), p.e0119737-e0119737

2015

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Acceptability of Multiple Uncoated Minitablets in Infants and Toddlers: A Randomized Controlled Trial

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

Late-Onset Group B Streptococcal Meningitis Has Cerebrovascular Complications

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Conjugated bilirubin triggers anemia by inducing erythrocyte death

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Aberrant plasma IL-7 and soluble IL-7 receptor levels indicate impaired T-cell response to IL-7 in human tuberculosis

Decreased expression of miR-21, miR-26a, miR-29a, and miR-142-3p in CD4⁺ T cells and peripheral blood from tuberculosis patients

Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism

Memory B-cells are enriched in the blood of patients with acute Buruli ulcer disease: a prospective observational study

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

Protecting against brain damage by improving treatment in neonates with hypoglycaemia: ProBrain-D—a study protocol of a prospective longitudinal study

Neugeborenes am 4. Lebenstag/m, Trinkschwäche, Apathie und Somnolenz: Vorbereitung auf die Facharztprüfung: Fall 6

Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

A novel mycobacterial In Vitro infection assay identifies differences of induced macrophage apoptosis between CD4+ and CD8+ T cells

Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

Aspects of Newborn Screening in Isovaleric Acidemia

Bile Acid-Induced Suicidal Erythrocyte Death

Osmotic regulation of hepatic betaine metabolism

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports

CD4 + T-Cells With High Common γ Chain Expression and Disturbed Cytokine Production Are Enriched in Children With Type-1 Diabetes

Rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients

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