Cargando…

X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan

X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene. This gene encodes for transmembrane adrenoleukodystrophy protein (ALDP). Defective ALDP protein results in the accumulation of a very long chain fatty acid (VLCFA) within ce...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ghori, Mariam, Molani, Rameen A, Ibrahim, Prof Mohsina N, Hanif, Misbah I, Jamal Raza, Jamal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Endocrinology/Diabetes/Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896247/ https://www.ncbi.nlm.nih.gov/pubmed/35291541 http://dx.doi.org/10.7759/cureus.21837

Ejemplares similares

Suspected Pediatric-Onset Common Variable Immune Deficiency (CVID) in a Seven-Year-Old Female With Pulmonary Manifestations
por: Noor, Noshaba, et al.
Publicado: (2022)

Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
por: Mannari, Aniruddh, et al.
Publicado: (2020)

Pediatric Risk of Mortality III Score in Predicting Mortality Among Diabetic Ketoacidosis Patients in a Pediatric Intensive Care Unit
por: Baloch, Sadam H, et al.
Publicado: (2021)

Bilateral Pheochromocytoma and Paraganglioma Tumors Due to Von Hippel-Lindau Syndrome in a 15-Year-Old Boy: A Case Report
por: Khalaf, Saeed, et al.
Publicado: (2023)

Prevalence of Dyslipidemia in Ischemic Stroke Patients: A Single-Center Prospective Study From Pakistan
por: Khan, Raja Sheraz Ullah, et al.
Publicado: (2022)

Vitamin D Deficiency and Associated Risk Factors in Muslim Housewives of Quetta, Pakistan: A Cross-Sectional Study
por: Hussain, Taimoor, et al.
Publicado: (2021)

Sensitivity, Specificity and Accuracy of Androgen Deficiency in Ageing Male (ADAM) Questionnaire for the Clinical Detection of Androgen Deficiency in the Male Population in Pakistan
por: Naz, Sidra, et al.
Publicado: (2020)

Neonatal Nonketotic Hyperglycinemia: A Rare Case from Pakistan
por: Bin Arif, Taha, et al.
Publicado: (2020)

Beri-Beri and Wernicke Encephalopathy in a Thirty-Year-Old Male
por: Lobao, Madalena, et al.
Publicado: (2022)

Association of Obesity and Thyroid Cancer at a Tertiary Care Hospital in Pakistan
por: Ali, Adnan, et al.
Publicado: (2018)

Comparision of Efficacy and Safety of Orlistat vs Placebo in Obese Patients in Pakistan
por: Syed, Asghar Hussain, et al.
Publicado: (2020)

The Utility of Ultrasound in the Preoperative Localization of Primary Hyperparathyroidism: Insights from Pakistan
por: Fatima, Tehseen, et al.
Publicado: (2020)

Factors for Social Stressors Among Type 2 Diabetics Versus Non-Diabetics Using the Hamilton Depression Rating Scale
por: Raja, Saadia Y, et al.
Publicado: (2020)

Seizures and Basal Ganglia Calcification Caused by Hypoparathyroidism
por: Nageen, Tabinda, et al.
Publicado: (2020)

Autoimmune Polyglandular Syndrome Type II: A Case Report
por: Jamal, Hera, et al.
Publicado: (2022)

Efficacy of Radioiodine Therapy in Patients With Primary Hyperthyroidism: An Institutional Review From Pakistan
por: Alvi, Asim Munir, et al.
Publicado: (2022)

Incidence of Rhegmatogenous Retinal Detachment (RRD) in a Tertiary Care Center of Pakistan
por: Iqbal, Saad M, et al.
Publicado: (2022)

The Outcomes of Dapagliflozin Use in Real-Life Clinical Settings in Endocrinology Clinics of Islamabad, Pakistan
por: Kamin, Matiullah, et al.
Publicado: (2020)

Association of Sensory Nerve Action Potential Amplitude and Velocity With Type 2 Diabetic Peripheral Neuropathy
por: Siddiqui, Anwar H, et al.
Publicado: (2023)

Microcephalic Osteodysplastic Primordial Dwarfism in Two Siblings Living in Sindh, Pakistan: A Case Report
por: Saifullah Khan, Shahzeen, et al.
Publicado: (2020)

Diabetes Distress Among Type 1 Diabetic Adolescents in a Tertiary Care Hospital in Pakistan
por: Jabeen, Zaina, et al.
Publicado: (2022)

Exploring the Indications, Levels, and Outcomes of Lower Extremity Amputation at a Tertiary Care Hospital in Pakistan
por: Khatoon, Malik Amna, et al.
Publicado: (2023)

Association of the JAZF1 Variant in Adults With a Parental History of Type 2 Diabetes Mellitus In Pakistan
por: Zano, Sheh, et al.
Publicado: (2020)

Malignant and Non-Malignant Causes of Hypercalcemia: A Retrospective Study at a Tertiary Care Hospital in Pakistan
por: Banu, Sabiha, et al.
Publicado: (2021)

Linear Growth and Final Height in People With Type 1 Diabetes: A Study From Karachi, Pakistan
por: Shaikh, Wajid, et al.
Publicado: (2022)

Acute Refractory Hypocalcemia in a 51-Year-Old Male With a History of 1,1-Difluoroethane Inhalation
por: Gleaves, Evan, et al.
Publicado: (2021)

Osteoporosis in a 60-Year-Old Male With a History of Chronic Myeloid Leukemia Treated With Imatinib Mesylate
por: Batra, Jaskaran, et al.
Publicado: (2023)

A Sweet Paradox: Severe Insulin Resistance and Hyperglycemia in Asymptomatic COVID-19 Infection
por: Ramchandani, Bhanvi P, et al.
Publicado: (2023)

Hypocalcemia and a Positive Metabolic Screen for Severe Combined Immunodeficiency in an 11-Day-Old Male With DiGeorge Syndrome
por: Ford, Jessica, et al.
Publicado: (2020)

Increased Serum-Immunoglobulin G4 Levels in a 12-Year-Old Male Patient With Central Diabetes Insipidus
por: Kimura, Takuro, et al.
Publicado: (2021)

Gastroparesis-Related Symptoms in Patients With Type 2 Diabetes Mellitus: Early Detection, Risk Factors, and Prevalence
por: Asghar, Shoaib, et al.
Publicado: (2023)

Insulin Resistance and Chronic Hepatitis C: Relationship With Serum Iron and Hepcidin
por: Gill, Maria, et al.
Publicado: (2020)

Pattern of Infecting Microorganisms and Their Susceptibility to Antimicrobial Drugs in Patients with Diabetic Foot Infections in a Tertiary Care Hospital in Karachi, Pakistan
por: Kaimkhani, Ghulam M, et al.
Publicado: (2018)

Clinical Presentation and Frequency of Metabolic Syndrome in Women With Polycystic Ovary Syndrome: An Experience From a Tertiary Care Hospital in Pakistan
por: Anjum, Sarwat, et al.
Publicado: (2020)

Investigating the Role of Ferritin in Determining Sexual Underdevelopment in Beta-Thalassemia Major Patients: A Cross-Sectional Analysis From Pakistan
por: Shahid, Zia, et al.
Publicado: (2021)

Multiple Brown Tumors in Primary Hyperparathyroidism Causing Pathological Fracture: A Case Report of a 21-Year-Old Adult Male
por: Aldosari, Sultan, et al.
Publicado: (2023)

Vitamin D Levels and Bone Mineral Density in Premenopausal Women Compared to Postmenopausal Women: A Multi-Centre Study From Pakistan
por: Khan, Abdul Wali, et al.
Publicado: (2020)

Evaluation of Diagnostic Utility of the Immunohistochemical Markers in the Accurate Diagnosis of Thyroid Neoplasms: A Retrospective Study in a Tertiary Care Hospital of Pakistan
por: Badini, Kaleemullah, et al.
Publicado: (2022)

Primary Hyperparathyroidism: To Evaluate Benefit of Ultrasound and Tc99m-SESTAMIBI Scan in Localizing Abnormal Parathyroid Gland Before Surgery, in a Secondary Care Hospital
por: Rehman, Habib U, et al.
Publicado: (2020)

Feasibility and Efficiency of a Novel Bolus Calculator (IF-DIABETE) for Patients With Type 1 Diabetes: A Nonrandomized Single-Arm Pilot Study
por: Rouf, Siham, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_q4ffeaq06scspokjj4j3f7qqp4