research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
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480-510 / 1000+ results research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data
Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
research Micronutrient deficiency in menstrual dysfunction among women of reproductive age
Women with menstrual dysfunction often have deficiencies in magnesium, iron, and vitamin D.
research Studies on nutritional deficiency in cows in El-Behera province
Nutritional deficiencies in cows lead to health issues like poor coat, low fertility, and reduced productivity.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Repetitive respiratory tract infection and trace elements zinc iron and cuprum in hair: A correlative study
Children with frequent respiratory infections may have low levels of zinc, iron, and copper.
research INTERRELATION OF ESSENTIAL METALS AND TRACE ELEMENTS’ LEVELS IN HAIR AND SERUM WITH A CLINICAL PICTURE OF AUTISM SPECTRUM DISORDER
Children with autism have different levels of certain metals and elements in their hair and blood, affecting symptoms.
research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Optic Nerve Changes in Zinc-deficient Rats
Zinc is essential for healthy optic nerves, and its deficiency can damage them.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Acquired Zinc Deficiency
Long-term parenteral nutrition without zinc can cause severe zinc deficiency.
research Clinical Diagnosis and Management of Vitamin - A Responsive Canine Dermatosis
Vitamin A supplements improved skin and health issues in dogs.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Predictors of Vitamin D Insufficiency in Children and Adolescents With Alopecia Areata
Children with alopecia areata often have low vitamin D, especially if they have darker skin, it's not summer, or they're not White.
research Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
research Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.