Serum hexosaminidase activity in I-cell disease carriers

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

American journal of human genetics·2000

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.

American heart journal·2000

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Annals of neurology·1999

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

The Journal of clinical investigation·1998

Inborn errors of metabolism: medical and administrative "orphans".

The American journal of managed care·1998

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Neurology·1997

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

The First Iranian Patient with West Syndrome Due to a RYR3 Gene Variant: A Case Report and Literature Review.

Archives of Iranian medicine·2026

Genetic analysis of inflammatory proteins following BCG vaccination in Danish children.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie·2026

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

JCO global oncology·2026

Ex vivo fluorescence confocal microscopy combined with rapid immunofluorescence for intraoperative intestinal mapping in near-total intestinal aganglionosis: a pediatric proof-of-concept case report.

Frontiers in medical technology·2026

Mechanisms and management of IgA nephropathy progression to end-stage renal disease: From the "four-hit" theory to precision medicine.

Clinical nephrology·2026

Evaluating Selection Strategies Based on Inbreeding Load via Simulation.

Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie·2026

Related Experiment Videos

Serum hexosaminidase activity in I-cell disease carriers

Related Concept Videos

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Inborn errors of metabolism: medical and administrative "orphans".

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

The First Iranian Patient with West Syndrome Due to a RYR3 Gene Variant: A Case Report and Literature Review.

Genetic analysis of inflammatory proteins following BCG vaccination in Danish children.

Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

Ex vivo fluorescence confocal microscopy combined with rapid immunofluorescence for intraoperative intestinal mapping in near-total intestinal aganglionosis: a pediatric proof-of-concept case report.

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Related Experiment Videos

Serum hexosaminidase activity in I-cell disease carriers

Abstract:

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