Results 141 to 150 of about 56,778 (348)

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Unusual presentation of Coxsackie B rhabdomyolysis : Case report and literature review [PDF]

open access: yes, 2014
Coxsackie virus infections occur throughout the year, but have an increased in the summer and fall (1). It is often self-limited and resolves with only symptomatic treatment, but the virus has been linked to rhabdomyolysis in case reports.
Katta, Natraj   +2 more
core  

A Case of Pirfenidone Induced Photosensitive Drug Eruption

open access: diamond, 2023
Soo Hyun Jeong   +4 more
openalex   +1 more source

Effect of Delgocitinib Cream on Health‐Related Quality of Life in Patients With Moderate to Severe Chronic Hand Eczema

open access: yesContact Dermatitis, EarlyView.
Patient‐reported outcomes are an important complement to physician‐assessed clinical outcome measures in Chronic Hand Eczema. In a pooled analysis of two randomised, controlled trials, twice‐daily treatment with delgocitinib cream 20 mg/g significantly improved the health‐related quality of life of patients with moderate to severe Chronic Hand Eczema ...
Andrea Bauer   +7 more
wiley   +1 more source

Little sisters: An exploration of agency, cultural borderlands, and institutional constraints in the lives of two teenage girls [PDF]

open access: yes, 2005
Part of a special issue on challenging corporate control of schools and communities. The writer discusses her experience with the Big Brothers and Big Sisters organization in Oakland, California, of mentoring two teenage girls who live in poverty and ...
Henze, Rosemary C.
core   +1 more source

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