Galactosaemia: relationship of IQ to biochemical control and genotype

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

Molecular genetics and metabolism·2019

The complete European guidelines on phenylketonuria: diagnosis and treatment.

Orphanet journal of rare diseases·2017

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

JIMD reports·2016

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

JIMD reports·2016

Expression of CD105 on expanded mesenchymal stem cells does not predict their chondrogenic potential.

Osteoarthritis and cartilage·2015

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

Journal of inherited metabolic disease·2015

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability.

Psychiatric genetics·2026

Leucine-rich glioma inactivated 1 (LGI1) is a ganglioside-binding protein.

FEBS letters·2026

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.

International journal of molecular sciences·2026

The genome sequence of the Tufted Button, Acleris cristana (Denis & Schiffermüller, 1775).

Wellcome open research·2026

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

Journal of medical cases·2026

The genome sequence of Natterer's Bat, Myotis nattereri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Wellcome open research·2026

Related Experiment Videos

Galactosaemia: relationship of IQ to biochemical control and genotype

Related Concept Videos

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Expression of CD105 on expanded mesenchymal stem cells does not predict their chondrogenic potential.

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability.

Leucine-rich glioma inactivated 1 (LGI1) is a ganglioside-binding protein.

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.

The genome sequence of the Tufted Button, Acleris cristana (Denis & Schiffermüller, 1775).

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

The genome sequence of Natterer's Bat, Myotis nattereri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Related Experiment Videos

Galactosaemia: relationship of IQ to biochemical control and genotype

Related Concept Videos

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