Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐<scp>IT</scp> on cognitive function in siblings with neuronopathic mucopolysaccharidosis <scp>II</scp>

2024-9-9

Long‐term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

2024-9-5

Intra‐ and extracellular real‐time analysis of perfused fibroblasts using an <scp>NMR</scp> bioreactor: A pilot study

2024-9-4

High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study

2024-9-3

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

2024-8-27

A 6‐month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications

2024-8-25

Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria

2024-8-23

Mild/moderate phenotypes in <scp>AADC</scp> deficiency: Focus on the aromatic amino acid decarboxylase protein

2024-8-21

Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect

2024-8-17

Health and well‐being of maturing adults with classic galactosemia

2024-8-14

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

2024-8-12

Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience

2024-8-12

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (<scp>PMM2</scp>‐<scp>CDG</scp>)

2024-8-6

Abstracts

2024-8-1

Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type <scp>II</scp>

2024-7-30

Pathological variants in nuclear genes causing mitochondrial complex <scp>III</scp> deficiency: <scp>An</scp> update

2024-7-25

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel

2024-7-23

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency

2024-7-22

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the <scp>followME</scp> Fabry <scp>Pathfinders</scp> registry

2024-7-19

The therapeutic landscape of citrin deficiency

2024-7-17

Citrin deficiency—The East‐side story

2024-7-12

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience

2024-7-11

The <scp>PompeQoL</scp> questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease

2024-7-9

Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”

2024-7-9

New variants expand the neurological phenotype of <scp>COQ7</scp> deficiency

2024-7-8

Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis

2024-7-4

Alternating cerebral edema and arterial dilations in <scp>M</scp>olybdenum cofactor deficiency type‐A

2024-7-4

Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT‐null <i>D. Melanogaster</i> model of classic galactosemia

2024-7-3

Issue Information

2024-7-1

<scp>MRI</scp> in <scp>LARS1</scp> deficiency—Spectrum, patterns, and correlation with acute neurological deterioration

2024-7-1

Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic <scp>DHDDS</scp> variants

2024-6-21

Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study

2024-6-19

Mitochondrial membrane synthesis, remodelling and cellular trafficking

2024-6-14

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

2024-6-14

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

2024-6-5

<i>Quo vadis</i> ureagenesis disorders? A journey from 90 years ago into the future

2024-6-4

Repurposing <scp>SGLT2</scp> inhibitors: Treatment of renal proximal tubulopathy in <scp>Fanconi‐Bickel</scp> syndrome with empagliflozin

2024-5-27

International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy

2024-5-25

Conserved quality control mechanisms of mitochondrial protein import

2024-5-24

Regulatory news: Olipudase alfa‐rpcp (<scp>Xenpozyme™</scp>) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (<scp>ASMD</scp>) in adult and pediatric patients—<scp>FDA</scp> Approval summary

2024-5-21

Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease

2024-5-20

Neuronopathic Gaucher disease: Rare in the West, common in the East

2024-5-20

Comparative analysis of gene and disease selection in genomic newborn screening studies

2024-5-16

Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to <i>N</i>‐acetylglutamate synthase deficiency

2024-5-13

Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy

2024-5-13

Human genetic defects of sphingolipid synthesis

2024-5-5

Neurotransmitters … it is all about communication!

2024-5-1

Disorders of fatty acid homeostasis

2024-5-1