Found: 7
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The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins.
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- Genes, 2024, v. 15, n. 8, p. 997, doi. 10.3390/genes15080997
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- Article
Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith–Wiedemann Syndrome.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 5, p. 829, doi. 10.3390/brainsci13050829
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- Article
Severe neurological complications in an infant during vitamin B<sub>12</sub> deficiency treatment: a case report.
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- Pomeranian Journal of Life Sciences, 2023, v. 69, n. 1, p. 53, doi. 10.21164/pomjlifesci.913
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- Article
The significance of molecular studies in the long-term follow-up of children with Beckwith-Wiedemann syndrome.
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- Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 177
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- Article
Patient with Phenylketonuria and Intellectual Disability—Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 5, p. 2574, doi. 10.3390/ijerph19052574
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- Article
The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 12, p. 6399, doi. 10.3390/ijerph18126399
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- Article
Phenylketonuria Patients' and Their Caregivers' Perception of the Pandemic Lockdown: The Results of a National Online Survey.
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- Children, 2022, v. 9, n. 2, p. 131, doi. 10.3390/children9020131
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- Article