David Coman

Modulation of immune cell reactivity with cis -binding Siglec agonists

Chromosome Abnormalities and Genetic Counseling

Arginine deprivation and argininosuccinate synthetase expression in the treatment of cancer

Applying genomic and transcriptomic advances to mitochondrial medicine

Hallmarks of aging: An expanding universe

Glycosylation in Cellular Mechanisms of Health and Disease

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

TFOS DEWS II pathophysiology report

Genetic defects in the human glycome

ROS Function in Redox Signaling and Oxidative Stress

Biological roles of glycans

The Glycoscience of Immunity

The Emerging Hallmarks of Cancer Metabolism

Structures and mechanisms of glycosyl hydrolases

A Pragmatic Guide to Enrichment Strategies for Mass Spectrometry–Based Glycoproteomics

Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations

Health Supervision for Children With Down Syndrome

Golgi Glycosylation and Human Inherited Diseases

LYSOSOMAL STORAGE DISEASES

Mitochondria as Oxidative Signaling Organelles in T-cell Activation: Physiological Role and Pathological Implications

Lectins:  Carbohydrate-Specific Proteins That Mediate Cellular Recognition

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

Multi‐systemic involvement in NGLY1‐related disorder caused by two novel mutations

Congenital Disorders of Glycosylation

Imaging the glycome

Investigating the functional link between TMEM165 and SPCA1

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

The skeletal manifestations of the congenital disorders of glycosylation

New indications and controversies in arginine therapy

LANGUAGE SKILLS IN A CHILD WITH LEBER HEREDITARY OPTIC NEUROPATHY FOLLOWING INTRATHECAL CHEMOTHERAPY FOR ACUTE LYMPHOBLASTIC LEUKEMIA

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Congenital disorder of glycosylation type Ia in a 6‐year‐old girl with a mild intellectual phenotype: Two novel PMM2 mutations