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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureThe Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?Morphology and function of cerebral arteries in adults with pompe diseaseNutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic AcidosisLethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?Unusual cardiac "masses" in a newborn with infantile pompe diseaseCeftriaxone for Alexander's Disease: A Four-Year Follow-Up.Fabry disease in latin america: data from the fabry registry.A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State.A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinCerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRSLethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage DiseaseCardiac arrest in kearns-sayre syndrome.Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations.Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intoleranceExtraosseous extension caused by epidural hematoma in Gaucher disease mimicking malignant bone tumorNeurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher diseaseTransaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencySevere Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
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description
(JIMD Rep.) Citations (20) · ...... ) Springer Berlin / Heidelberg
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revista científica
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wetenschappelijk tijdschrift van Springer Science+Business Media
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wissenschaftliche Fachzeitschrift
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name
Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
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type
label
Journal of Inherited Metabolic Disorders Reports
@ast
Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
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altLabel
JIMD Rep
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JIMD Reports
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JIMD reports
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prefLabel
Journal of Inherited Metabolic Disorders Reports
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Journal of Inherited Metabolic Disorders Reports
@en
Journal of Inherited Metabolic Disorders Reports
@es
Journal of Inherited Metabolic Disorders Reports
@nl
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21100895624
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JIMD reports
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Journal of Inherited Metabolic Disorders Reports
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