Results 151 to 160 of about 2,863,419 (210)

Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum. [PDF]

World J Clin Pediatr
Thangaraj A, Aggarwal R, Sarkar S, Pilania RK.   +3 more
europepmc   +1 more source

Monocarboxylate transporter 1 deficiency: a rare case report and systematic review of genetically confirmed cases. [PDF]

Ann Med Surg (Lond)
Khalifa YM, Assem MY, Ahmed ZF, Hasan LT, Qutob IA.   +4 more
europepmc   +1 more source

Pregnancy Complicated by Hereditary Antithrombin Deficiency: A Case Study and Insights From the Literature. [PDF]

Clin Case Rep
Zhao Y, Yin J, Song J, Zhao Y, Zhang Y.
europepmc   +1 more source

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source

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Genetics of IgA deficiency

APMIS, 1995
IgA deficiency is the most common humoral defect in man and results in an increased susceptibility to respiratory tract and gastrointestinal infections. Both clinical and genetic data support a close relationship with common variable immunodeficiency, a disease which involves not only IgA and IgG production, but also, in half of the patients, IgM.
L, Truedsson, B, Baskin, Q, Pan, H, Rabbani, I, Vorĕchovský, C I, Smith, L, Hammarström   +6 more
openaire   +2 more sources

Genetics of Radial Deficiencies

Journal of Bone and Joint Surgery, 2009
More than 15% of the anomalies described in the London Dysmorphology Database are associated with various manifestations of radial longitudinal deficiency1. Their etiology may be genetic, environmental, or a combination of these factors. While most of the known inherited disorders are single-gene disorders, family members carrying the same mutation ...
Esther, de Graaff, Scott H, Kozin
openaire   +2 more sources

The genetics of familial glucocorticoid deficiency

Best Practice & Research Clinical Endocrinology & Metabolism, 2009
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal.
Adrian J L, Clark, Li F, Chan, Teng-Teng, Chung, Louise A, Metherell   +3 more
openaire   +2 more sources

Streptococci deficient in genetic transformation

Canadian Journal of Microbiology, 1971
Three strains of group H streptococci have been found to produce competence factors (CF's) similar to that synthesized by the highly transformable strain Challis. All these factors efficiently converted to competency for DNA uptake the spontaneously nontransformable strain Wicky. Two of the three strains could be transformed to drug resistance with an
R, Pakula, L R, Spencer, P A, Goldstein
openaire   +2 more sources