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Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 5, p. 1445, doi. 10.1007/s12041-018-1002-0
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- Article
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
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- Turkish Journal of Gastroenterology, 2023, v. 34, n. 10, p. 1088, doi. 10.5152/tjg.2023.22791
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- Article
Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.
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- Journal of the College of Physicians & Surgeons Pakistan, 2022, v. 32, n. 2, p. 242, doi. 10.29271/jcpsp.2022.02.242
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- Article
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
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- Journal of the College of Physicians & Surgeons Pakistan, 2022, v. 32, n. 2, p. 236, doi. 10.29271/jcpsp.2022.02.236
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- Article
Berardinelli-Seip Congenital Generalised Lipodystrophy.
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- Journal of the College of Physicians & Surgeons Pakistan, 2018, v. 28, n. 5, p. 406, doi. 10.29271/jcpsp.2018.05.406
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- Article
Is Hepatovenocaval Syndrome a Different Entity from Budd-Chiari Syndrome in Children?
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- Journal of the College of Physicians & Surgeons Pakistan, 2018, v. 28, n. 5, p. 344, doi. 10.29271/jcpsp.2018.05.1.344
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- Article
Effectiveness and Safety of Sofosbuvir in Treatment-Näive Children with Hepatitis C Infection.
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- Journal of the College of Physicians & Surgeons Pakistan, 2017, v. 27, n. 7, p. 423
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- Article
Mucopolysaccharidoses -- Clinical Spectrum and Frequency of Different Types.
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- Journal of the College of Physicians & Surgeons Pakistan, 2017, v. 27, n. 2, p. 80
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- Article
Chanarin-Dorfman Syndrome.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2016, v. 26, n. 9, p. 787
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- Article
Hepatitis A and E Co-Infection with Worst Outcome.
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- Journal of the College of Physicians & Surgeons Pakistan, 2016, v. 26, p. S31
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- Article
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
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- Journal of the College of Physicians & Surgeons Pakistan, 2016, v. 26, n. 6, p. 498
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- Article
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
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- Pakistan Journal of Medical Sciences, 2020, v. 36, n. 3, p. 479, doi. 10.12669/pjms.36.3.467
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- Article
PHENOTYPIC AND GENOTYPIC CHARACTERISTICS OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 IN PEDIATRIC POPULATION IN PAKISTAN.
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- Khyber Medical University Journal, 2022, v. 14, n. 1, p. 11, doi. 10.35845/kmuj.2022.21935
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- Article
Diabetes and CFAP126 gene mutation; are they really linked together?
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- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 10, p. 912, doi. 10.1515/jpem-2024-0192
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- Article
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
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- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 2, p. 152, doi. 10.1515/jpem-2022-0550
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- Article
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 11, p. 1429, doi. 10.1515/jpem-2022-0214
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- Article
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1117, doi. 10.1515/jpem-2019-0603
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- Article
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 3, p. 647, doi. 10.1515/jpem-2019-0426
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- Article
Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 4, p. 553, doi. 10.1515/jpem-2019-0477
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- Article
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1221, doi. 10.1515/jpem-2019-0188
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- Article
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 11, p. 1203, doi. 10.1515/jpem-2017-0188
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- Article
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 327, doi. 10.1515/jpem-2015-0289
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- Article
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
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- Life Science Alliance, 2023, v. 6, n. 3, p. 1, doi. 10.26508/lsa.202201673
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- Article
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore.
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- Journal of the Pakistan Medical Association, 2016, v. 66, n. 8, p. 984
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- Article
The mutational landscape of genetic cholestatic diseases in Pakistani children.
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- Journal of the Pakistan Medical Association, 2023, v. 73, n. 8, p. 1610, doi. 10.47391/JPMA.7069
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- Article
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.
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- Journal of the Pakistan Medical Association, 2021, v. 71, n. 10, p. 2350, doi. 10.47391/JPMA.05-725
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- Article
Haemobilia: secondary to micro aneurysms of hepatic artery.
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- Journal of the Pakistan Medical Association, 2020, v. 70, n. 5, p. 917, doi. 10.5455/JPMA.291186
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- Article
Etiological and Clinical Spectrum of Acute Liver Failure of Infancy in Pakistan.
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- Pakistan Armed Forces Medical Journal, 2022, v. 72, n. 6, p. 2210
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- Article
Etiological and Clinical Spectrum of Acute Liver Failure of Infancy in Pakistan.
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- Pakistan Armed Forces Medical Journal, 2022, v. 72, n. 6, p. 2210, doi. 10.51253/pafmj.v72i6.7247
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- Article
Assessment of Quality of Life Among Children with Inflammatory Bowel Disease.
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- Pakistan Armed Forces Medical Journal, 2022, v. 72, n. 5, p. 1698, doi. 10.51253/pafmj.v72i5.6845
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- Article
SEROLOGICAL VERUS HISTOLOGICAL DIAGNOSIS IN PEDIATRIC CELIAC DISEASE: IS THERE A NEED FOR SMALL BOWEL BIOPSY?
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- Pakistan Armed Forces Medical Journal, 2021, v. 71, n. 1, p. 323
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- Article
ETIOLOGY AND PATTERN OF PRESENTATION OF GASTRITIS IN CHILDREN, OUR EXPERIENCE AT A TERTIARY CARE HOSPITAL.
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- Pakistan Armed Forces Medical Journal, 2018, v. 68, n. 2, p. 289
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- Article
Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
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- Human Heredity, 2019, v. 84, n. 6, p. 279, doi. 10.1159/000510065
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- Article
INDICATORS OF HEPATOPULMONARY SYNDROME IN PATIENTS WITH PORTAL HYPERTENSION. ITS VARIOUS AETIOLOGIES, CLINICAL PRESENTATIONS AND OUTCOME.
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- Journal of Ayub Medical College Abbottabad - Pakistan, 2021, v. 33, n. 1, p. 14
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- Article
HEPATIC GLYCOGENOSIS IN CHILDREN: SPECTRUM OF PRESENTATION AND DIAGNOSTIC MODALITIES.
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- Journal of Ayub Medical College Abbottabad - Pakistan, 2019, v. 31, n. 3, p. 368
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- Article