0000000000286319

AUTHOR

Martin Smitka

showing 3 related works from this author

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

2019

Objective To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis. Study design We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria. Results Eight patients were classified as infantile, 11 as late-infantile, and 3 as juvenile form. Delay of diagnosis was 6 ± 2.6 months in the infantile, 2.6 ± 3.79 years in the late-infantile, and 14 ± 3.48 years in the juvenile form. Coarse facial features, cherry red spots, and visceromegaly occurred only in patients with the infantile form. …

Malemedicine.medical_specialtyMovement disordersAdolescentGenotypeUrinary systemDNA Mutational AnalysisDiseaseGastroenterologyYoung Adult03 medical and health sciences0302 clinical medicineGermany030225 pediatricsInternal medicineGenotypemedicineHumans030212 general & internal medicineChildRetrospective StudiesDystoniaGangliosidosis GM1Coarse facial featuresbusiness.industryIncidenceInfantDNAbeta-Galactosidasemedicine.diseaseDysphagiaPhenotypeAustriaChild PreschoolMutationPediatrics Perinatology and Child HealthATP-Binding Cassette TransportersFemalemedicine.symptombusinessVisceromegalyFollow-Up StudiesThe Journal of Pediatrics
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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

2015

Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…

congenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtybusiness.industryMEDLINEnutritional and metabolic diseases610 Medicine & healthDiseaseMetabolic myopathyEnzyme replacement therapymedicine.disease1301 Biochemistry Genetics and Molecular Biology (miscellaneous)ArticleClinical trial2712 Endocrinology Diabetes and Metabolism10036 Medical Clinic2724 Internal MedicineCohortmedicineGlycogen storage diseasebusiness
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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…

Pediatricsmedicine.medical_specialtyGeneralized muscle weaknessDisease03 medical and health sciences0302 clinical medicineGenotypeHumansMedicineFamily historyRetrospective Studies030304 developmental biology0303 health sciencesGlycogen Storage Disease Type IIbusiness.industryHypertrophic cardiomyopathyMuscle weaknessalpha-GlucosidasesGeneral Medicinemedicine.disease3. Good healthPhenotypeJuvenile onsetMutationPediatrics Perinatology and Child HealthFailure to thriveNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgeryNeuropediatrics
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