Steroid sulfatase deficiency and X-linked ichthyosis

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Journal of human evolution·2006

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

Proceedings of the National Academy of Sciences of the United States of America·2003

The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1.

Somatic cell and molecular genetics·2001

Lateral bending of the lumbar spine during quadrupedalism in strepsirhines.

Journal of human evolution·2001

Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes.

Prenatal diagnosis·1998

Positional behavior and vertebral morphology in atelines and cebines.

American journal of physical anthropology·1998

Non-steroidal anti-inflammatory drugs and CYP2C9 - Impacts of genetics and phenoconversion on the risk of adverse effects.

Clinical biochemistry·2026

Unexpected increase in false-positive results following benzodiazepine immunoassay reformulation.

Clinical biochemistry·2026

Implementation of rules for the estimation of compensatory responses in acid-base analysis: A review and proposal for laboratory practice.

Clinical biochemistry·2026

Short-term storage of pediatric cerebrospinal fluid and serum requires standardized handling to preserve neurological injury biomarker stability.

Clinical biochemistry·2026

β2-microglobulin, not muscle mass, accounts for the association between eGFR discordance and mortality in CKD.

Clinical biochemistry·2026

Reference intervals for plasma renin and aldosterone concentrations in healthy normotensive multi-ethnic Malaysian adults using DiaSorin chemiluminescent immunoassay.

Clinical biochemistry·2026

Hydrogen sulfide primes drought tolerance in plants by metabolic control of DNA methylation.

iScience·2026

Downsizing the Histone H3-H4 Quaternary Structure Into Foldamer Mimetics Yields High-Affinity and Cell-Permeable Ligands of ASF1.

Angewandte Chemie (International ed. in English)·2026

Use of Benzene-Free Carbomer 980 in the Formulation of Metronidazole Gel 0.75% and Demonstration of Equivalence with Carbomer 940.

AAPS PharmSciTech·2026

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

Journal of molecular biology·2026

Domino Effect in Epimer Self-Assembly Induces Diverse Hydrogel Properties for Biomedical Applications.

Angewandte Chemie (International ed. in English)·2026

Related Experiment Videos

Steroid sulfatase deficiency and X-linked ichthyosis

Related Concept Videos

New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar.

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1.

Lateral bending of the lumbar spine during quadrupedalism in strepsirhines.

Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes.

Positional behavior and vertebral morphology in atelines and cebines.

Non-steroidal anti-inflammatory drugs and CYP2C9 - Impacts of genetics and phenoconversion on the risk of adverse effects.

Unexpected increase in false-positive results following benzodiazepine immunoassay reformulation.

Implementation of rules for the estimation of compensatory responses in acid-base analysis: A review and proposal for laboratory practice.

Short-term storage of pediatric cerebrospinal fluid and serum requires standardized handling to preserve neurological injury biomarker stability.

β2-microglobulin, not muscle mass, accounts for the association between eGFR discordance and mortality in CKD.

Reference intervals for plasma renin and aldosterone concentrations in healthy normotensive multi-ethnic Malaysian adults using DiaSorin chemiluminescent immunoassay.

Hydrogen sulfide primes drought tolerance in plants by metabolic control of DNA methylation.

Downsizing the Histone H3-H4 Quaternary Structure Into Foldamer Mimetics Yields High-Affinity and Cell-Permeable Ligands of ASF1.

Use of Benzene-Free Carbomer 980 in the Formulation of Metronidazole Gel 0.75% and Demonstration of Equivalence with Carbomer 940.

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

Domino Effect in Epimer Self-Assembly Induces Diverse Hydrogel Properties for Biomedical Applications.

Related Experiment Videos

Steroid sulfatase deficiency and X-linked ichthyosis

Related Concept Videos

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