The oligosaccharidoses: proposal of a new name and a new classification for the mucolipidoses

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Journal of medical genetics·2009

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Journal of medical genetics·2008

Aminoacylase I deficiency: a novel inborn error of metabolism.

Biochemical and biophysical research communications·2005

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

American journal of medical genetics. Part A·2004

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

American journal of medical genetics. Part A·2003

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

American journal of human genetics·2001

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Engineering peroxygenases for pharmaceutical applications: recent advances and future perspectives.

Chemical science·2026

Integrated metabolomic and transcriptomic profiling uncovers a citrus terpene synthase with in vivo-in vitro catalytic divergence and psyllid-attracting ecological function.

Frontiers in plant science·2026

Biological Activities and Phenolic Composition of Amanita ovoidea (Agaricomycetes) Extracts.

International journal of medicinal mushrooms·2026

Microwave-Assisted Hydrogen Peroxide Synergistic Extraction of Auricularia auricula-judae (Agaricomycetes) Polysaccharides and Their Antioxidant Stress Response.

International journal of medicinal mushrooms·2026

Secondary metabolites from the oyster-derived fungus Trichoderma sp. QCML7-3.

Natural product research·2026

Defining the Oxysterolome: Analytical Coverage, Metabolic Connectivity, and Biological Validation.

Journal of lipid research·2026

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The oligosaccharidoses: proposal of a new name and a new classification for the mucolipidoses

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Aminoacylase I deficiency: a novel inborn error of metabolism.

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

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Limb anomalies from evolutionary, developmental, and genetic perspectives.

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Integrated metabolomic and transcriptomic profiling uncovers a citrus terpene synthase with in vivo-in vitro catalytic divergence and psyllid-attracting ecological function.

Biological Activities and Phenolic Composition of Amanita ovoidea (Agaricomycetes) Extracts.

Microwave-Assisted Hydrogen Peroxide Synergistic Extraction of Auricularia auricula-judae (Agaricomycetes) Polysaccharides and Their Antioxidant Stress Response.

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