Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].

Casopis lekaru ceskych·2012

[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis].

Vnitrni lekarstvi·2012

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Gene·2012

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

Clinical nephrology·2010

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

Human molecular genetics·2010

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Molecular genetics and metabolism·2010

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report.

Pediatric endocrinology, diabetes, and metabolism·2026

Comparing Dual X-Ray Absorptiometry to Anthropometry to Determine the Lean Mass-to-Bone Ratio.

International journal of sports medicine·2026

Diastereoselective Synthesis of β-Branched α-Amino Acids from β, γ-Unsaturated Amides and Glycine-Derived Imines via Tandem Isomerization-Conjugate Addition.

The Journal of organic chemistry·2026

Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.

Frontiers in genetics·2026

Gut microbiota and serum metabolomics in children with human parainfluenza virus infection.

Frontiers in cellular and infection microbiology·2026

Identification of Succinylation-Related Transcriptional Signatures in Alzheimer's Disease: Integrated Bioinformatics Analysis and Clinical Validation.

Molecular neurobiology·2026

Related Experiment Videos

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

Related Concept Videos

[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].

[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis].

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report.

Comparing Dual X-Ray Absorptiometry to Anthropometry to Determine the Lean Mass-to-Bone Ratio.

Diastereoselective Synthesis of β-Branched α-Amino Acids from β, γ-Unsaturated Amides and Glycine-Derived Imines via Tandem Isomerization-Conjugate Addition.

Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.

Gut microbiota and serum metabolomics in children with human parainfluenza virus infection.

Identification of Succinylation-Related Transcriptional Signatures in Alzheimer's Disease: Integrated Bioinformatics Analysis and Clinical Validation.

Related Experiment Videos

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

Related Concept Videos

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