Katharina A. Schiergens
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View article: MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening
MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening Open
Background: Monocarboxylate-transporter-8-(MCT8) deficiency, or Allan–Herndon–Dudley syndrome (AHDS), is a rare X-linked disorder caused by pathogenic variants in the SLC16A2 gene, leading to impaired transport of thyroid hormones, primari…
View article: Immunophenotypic Implications of Reverse-Circadian Glucocorticoid Treatment in Congenital Adrenal Hyperplasia
Immunophenotypic Implications of Reverse-Circadian Glucocorticoid Treatment in Congenital Adrenal Hyperplasia Open
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) requires lifelong glucocorticoid replacement to manage cortisol deficiency and excessive androgen production. Conventional circadian treatment (CT) tries to mimi…
View article: Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study
Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study Open
Objective Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed adrenal crisis (AC) incidence, frequency, and details of SD and dise…
View article: Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32 Open
There was an error in the original publication [...]
View article: Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Open
View article: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Open
View article: Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families Open
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this c…
View article: Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience Open
View article: Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections Open
View article: Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria Open
Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long‐term clinical benefit of screened individuals, however, is sti…
View article: Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study Open
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic o…
View article: Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie
Ernährung bei angeborenen Stoffwechselerkrankungen – ein Spagat zwischen Genuss und Therapie Open
View article: Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Open
Our observations highlight limitations of newborn screening for MTP/LCHAD deficiency. They confirm that analyses of acylcarnitines in blood and organic acids in urine alone are not suitable for confirmatory testing and molecular or functio…
View article: Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1 Open
Objective Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a complex, predominantly dystonic movement disorder (MD) following acute or insidious onset striatal damage. Implementation of GA1 into newborn scree…
View article: Der Wirkmechanismus des natürlichen Kofaktors Tetrahydrobiopterin als pharmakologisches Chaperon bei der Behandlung der Phenylketonurie
Der Wirkmechanismus des natürlichen Kofaktors Tetrahydrobiopterin als pharmakologisches Chaperon bei der Behandlung der Phenylketonurie Open