485 papers found
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Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
Screening for asymptomatic β-cell autoimmunity in young children
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Neurometabolic hereditary diseases of adults
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study
Risk factors for childhood overweight and obesity in Ukraine and Germany
Organoazidurien
Aminoazidopathien
Kreatinmangelsyndrome
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