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  1. 31821
    por Alghamdi, Ahmed Hassan
    Publicado 2023
    “…Patient: The presented case was a three-year-old Saudi girl who presented with dehydration and seizures as a complication of hypoglycemia. …”
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    Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report
  2. 31822
    “…Case 2: A 17-year-old girl was referred to Oral Medicine with a diagnosis of Sjögren’s syndrome. …”
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    O20 A case series of paediatric primary Sjögren’s syndrome: differential diagnoses and multidisciplinary management
  3. 31823
    “…CASE PRESENTATION: Case 1 was of a 3-year-old girl diagnosed with PWS who developed arthritis of the right knee with morning stiffness, joint swelling, and limited range of motion. …”
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    Case report: Prader–Willi syndrome and inflammatory arthritis—An important consideration
  4. 31824
    “…Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. …”
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    Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn
  5. 31825
    “…CASE SUMMARY: The 5-year-old girl presented with postpartum height and weight growth retardation, language retardation, brain atrophy, convulsions, and growth hormone deficiency. …”
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    Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
  6. 31826
    por Ghassa, Ali, Khouri, Lina
    Publicado 2023
    “…CASE PRESENTATION: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. …”
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    Caroli syndrome associated with atrial septal defect and polydactyly: a case report
  7. 31827
    “…CASE PRESENTATION: We report a case of VEO-IBD associated with a monogenic mutation in a 2-year-old girl presenting mainly with gastrointestinal symptoms, including recurrent hematochezia and abdominal pain for more than 3 months. …”
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    Hematopoietic stem cell transplantation for CYBB heterozygous mutation resulting in very early onset inflammatory bowel disease in children: a case report
  8. 31828
    “…CASE REPORT: This report describes a boy and a girl with LCPD who underwent surgical treatment at the ages of 12 and 11 years, respectively. …”
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    Long-term Survival after Femoral Anterior Rotational Osteotomy for Late-onset Legg-Calvé-Perthes Disease: A Case Report with 27-year Follow-up?
  9. 31829
    “…PATIENT CONCERNS: We are reporting a case of an 11-year-old girl who presented with persistent pain and swelling in her left index finger, as well as limited mobility, over the course of 1 year. …”
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    Recurrent osteoid osteoma of the index proximal phalanx: A case report with a new resection technique
  10. 31830
    “…We also performed whole-genome sequencing of blood- and tumor-derived DNAs from a unilateral dysgerminoma in a 13-year-old girl with PWS who also developed bilateral ovarian sex cord tumors with annular tubules. …”
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    Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
  11. 31831
    “…RESEARCH DESIGN AND METHODS: In this methodological research, 770 boy and girl adolescents (between 13 and 15) from Tehran participated through multistage sampling. …”
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    Health beliefs on type 2 diabetes: a methodological research for development and psychometric evaluation of “DIABA” (Diabetes-related Instrument to Assess Beliefs of Adolescents) health beliefs on type 2 diabetes
  12. 31832
    “…METHODS: In this study, we report on a 10-year-old girl with hemichorea after SARS-CoV-2 infection and immunostained murine brain with patient CSF to identify intrathecal antibodies. …”
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    Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2
  13. 31833
    “…Regression analyses showed that lower parental age and having a girl with SSNS were significantly associated with more practical problems and higher distress thermometer scores, respectively. …”
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    Distress in parents of children with first-onset steroid-sensitive nephrotic syndrome
  14. 31834
    “…CASE REPORT: A 12-year-old girl experienced one episode of anaphylaxis within 30 minutes of having breakfast (including milk, egg, wheat bread, and blueberry) while walking to school. …”
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    Blueberry (Vaccinium myrtillus) Induced Anaphylaxis in a Chinese Child with Lipid Transfer Protein Sensitization
  15. 31835
    “…Results: The patient presented neonatally with 46,XY DSD and was diagnosed as partial androgen insensitivity syndrome carrying a disease causing AR mutation (p.Q798E). She was raised as a girl and gonadectomized at the age of 4 yr. At 9 yr progressive clitoral enlargement prompted reassessment. …”
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    Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
  16. 31836
    “…We describe the case of a girl presenting with stunted growth and malnourishment. …”
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    Late diagnosis of celiac disease in an asymptomatic infant with growth failure
  17. 31837
    “…CASE PRESENTATION: The proband was a 17 year-old girl. She presented diabetes mellitus, optic neuropathy, intestinal ulcers, sensorineural hearing loss, and defective platelet aggregation to ADP. …”
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    A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
  18. 31838
    “…CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. …”
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    A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report
  19. 31839
    “…CASE PRESENTATION: We report on a girl affected by APS 1 who presented with cutaneous vasculitis when she was seven-months old, some years before the onset of the common components of the disease. …”
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    Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
  20. 31840
    “…A case vignette (HVS analysis for a 5.5-year-old girl with major insomnia and several co-morbidities) demonstrates how methodological considerations were addressed and how HVS added value to clinical assessment. …”
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    “Diagnosis by Behavioral Observation” Home-Videosomnography – A Rigorous Ethnographic Approach to Sleep of Children with Neurodevelopmental Conditions
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