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Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.

A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.

Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.

The compounding pharmacy in Venâncio Aires generally follows good practices, with only the Paracetamol sample showing significant microbial growth.

Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.

Lambertianic acid helps prevent muscle wasting.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.

The ethanol patch test reliably identifies ALDH phenotype.

Lamins are vital for cell survival, organ development, and preventing premature aging.

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.

Human hair contains a substance that shows blood group A activity.

The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.

DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.

Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.

LAAM caused developmental toxicity in tolerant rats without causing birth defects.

Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.

The anti-hangover product may boost enzyme activity to help prevent brain damage.

ALDOA levels drop in hair cells during hair loss.

Low-level laser therapy can boost cell activity and energy production.

A man had two rare autoimmune diseases that might be connected.