Molecular Genetics and Metabolism Reports

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

Benefits of prophylactic heme therapy in severe acute intermittent porphyria

Very rare condition of multiple Gaucheroma: A case report and review of the literature

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

Comment: Why are females with Fabry disease affected?

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Hydrophobic sand is a viable method of urine collection from the rat for extracellular vesicle biomarker analysis

Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Molecular based newborn screening in Germany: Follow-up for cystinosis

A case of motor neuron involvement in Gaucher disease

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

Comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

Mitochondrial myopathy plus due to the variant m.586G\u202f>\u202fA in MT-TF

Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C\u202f>\u202fT

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Transition of patients with mucopolysaccharidosis from paediatric to adult care

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

Peculiarities of the m.3243A>G variant in MT-TL1 leave medicine unprecise

Pulmonary hypertension may be secondary in carriers of compound heterozygous FOXRED1 variants

Response to comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

ERT impact on left ventricular mass in Fabry disease