Publications In International and National Journals – Prof. Dr. Huma Arshad Cheema
Identification of two novel variants in GAA underlying Infantile –onset Pompe Disease in Two Pakistani families Cheema HA ,Bibi Zubaida et al 2020 Apr 28;33(4):553-556. Journal of Pediatric Endocrinology and Metabolism JPDEM
Variability of Clinical and biochemical phenotype in liver Phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene, Nadia Waheed , Anju m Saeed Cheema HA published online 23 July 2020 Journal of Pediatric Endocrinology and Metabolism JPDEM
Novel IDUA variants identified in unrelated Pakistani Patients affected with Mucopplysaccharidosis type 1 (Hurler syndrome) Cheema HA, Hajra Batool, Bibi zubaida et al Molecular Syndromology Feb 2020
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family Mohd Naeem Bibi Zubaida Cheema HA et al J Pediatr Endocrinol Metab 2020 May 26;33(5):647-651.
Mutation spectrum of Glucocerebrosidase gene in Pakistani patients with Gaucher Disease Cheema HA et al Molecular Genetics and Metabolism 129(2) S39 Feb 2020
Phenotypic Diversity of Niemann Pick Disease type C in Pakistani Children: Cheema HA, Anjum Saeed ,Nadeem Anjum Molecular Genetics and Metabolism feb 2020 Volume 126 , Issue 2 , February 2019
Loss of UGP2 in brain leads to severe epileptic encephelopathy, emphasizing that bi-allelic isoform specific start-loss mutation of essential genes can cause genetic diseases. Ellena Parenthelar ,Cheema et al. Acta neuropathologica 139, pages415–442(2020)
Genetic Analysis of Tyrosinemia type 1 and fructose 16 biphosphatase deficiency affected Pakistani Cohorts HA Cheema Yasir Zahoor et al Fetal and Pediatric Pathology 2019 Oct 4;1-11.
OSTa deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea. Gao E, Cheema HA, Waheed N. Hepatology.: 21 Dec 2019, 71(5):1879-1882
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. Zahoor MY, Cheema HA, Ijaz S, Anjum MN et al. Journal of Pediatric Endocrinology and Metabolism JPDEM 2019 Nov 26;32(11):1221-1227.
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients. Cheema HA, Iqra GR, Anjum MN, Zahoor MY. Pakistan Journal of Medical sciences Vol 36 No 3 (2020): March – April 2020
Neonatal Cholestasis and Congenital Malaria- Experience from a tertiary care hospital. Batool SS, Cheema HA, Saeed A, Fayyaz Z. Pakistan Pediatric Journal (Dec, 2019).
Mutation spectrum of UGT1A1 in inherited unconjugated hyperbilirubinemic Pakistani children. Zubaida B, Cheema HA, Hashmi MA, Naeem M. Ciinical biochem, 2019; 69:30-35.
Celiac Disease in Children. Saeed A, Assiri A, Cheema HA, J Nat Set Med 2019:2:23-8.
Hepatic glycogenosis in children: spectrum of presentation and diagnostic modalities. Bilal H, Cheema HA, Fayyaz Z, Saeed A, Batool SS, J Ayub Med Coll Abbotabad 2019 31(3) 365-71.
Rare presentation of Haemobilia and Loefflers pneumonia in a child by ascaris lumbricoides, Cheema HA, Waheed N, Saeed A, BMJ Case Rep 28 Aug 2019, 12(8)
BMJ Case reports Unusual case of Juvenile Tay-Sachs disease. Cheema HA, Waheed N, Saeed A Case report 2019 Sep 12 : 12(9)
Genetic analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase deficiency affected Pakistani cohorts. Zahoor MY , Cheema HA Fetal and Pediatric Pathology, 2019 Oct 4;1-11.
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. Zubaida B, Cheema Et al. Journal of Genetics volume 97, pages1445–1449(2018)
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. Ijaz S, Zahoor MY, Cheema HA, Imran M. J Pediatr Endocrinol Metab 01 Oct 2017, 30(11):1203-1210
Ribavirin free direct acting antiviral in adolescents with hepatitis C and Thalasemia. Alvi MA, Cheema HA, Saeed A, Batool S, Journal of Fatima Jinnah Medical University. 2018; 12: 110-114.
The Budd Chiari Syndrome, etiology, clinical presentation, radiological findings and outcome in children under 16 years of age. Waheed N, Cheema HA, Saeed A, Alvi MA, Anjum MN, Hamdani SSB, Pak Pediatr J 2018, 42(4) 242-46.
Vitamin D intoxication in 7 months old infant with recommended daily intake of vitamin D, Waheed N, Cheema HA, Saeed A, Alvi MA, F Zafar, Anjum N, Batool S, J. Ayub Med Coll Abbotabad 2018: 30(4-Supp).
Berardinelli-Seip Congenital Generalized Lipodystrophy-A Case Series And Literature Review From Pakistan. Cheema HA, Malik HS, Waheed N, Mushtaq I. Journal of the College of Physicians and Surgeons Pakistan 2018, Vol. 28 (5): 406-408
Hepatovenocaval Syndrome Is A Different Entity From Budd Chiari Syndrome. Waheed N, Cheema H, Waheed N, Malik H S, Mushtaq I. Journal of the College of Physicians and Surgeons Pakistan 2018, Vol. 28 (5): 344-347
Book Chapter: Pediatric liver tumors. Author: Prof Huma Arshad Cheema. Textbook of Pediatric Gastroenterology, Hepatology and Nutrition: Anupam Sibal, Sarath Gopalan (eds), Akshay Kapoor, Vidyut Bhatia (co-eds) Published by Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, India; First Edition: 2015; ISBN: 978-93-5152-740-4
Spontaneous perforation of bile duct, clinical presentation laboratory work up, treatment and outcome. Suleman H, Cheema HA, Fayyaz Z. A study from a tertiary care hospital in Pakistan- Journal of Ayub Medical College Abbottabad 28 (3) 518-522
Causes of Chronic Non-infectious Diarrhea in Infants less than 6 months, Iqra Mushtaq I, Cheema HA, Malik HS, Waheed N, Hashmi MA. J Ayub Med Coll Abbottabad 2017:29(1).
Effectiveness and Safety Of Sofosbuvir In Treatment-Naïve Children With Hepatitis C Infection, Hashmi MA, Cheema HA. Journal of The College of Physicians And Surgeons Pakistan 2017, Vol 27 (7): 423-426.
Hepatitis A & E co-infection with worst outcome. Saeed A, Cheema HA, Assiri A. J College of physicians and surgeons, Pakistan 2016;26:S31-S32.
Mitomycin C–A breakthrough for Esophageal Strictures- Prospective Study at a Tertiary Care center. Cheema HA, Suleman H, Parkash A, Fayyaz Z. Pak Pediatric Journal 2016-40 (1)-59-63
Chanarin-Dorfman Syndrome Nadia Waheed, Huma Arshad Cheema, Hassan Suleman, Iqra Mushtaq, Zafar Fayyaz. J Coll Physicians Surg ak Sep 2016.26(9):787-9
Spectrum of inherited metabolic disorders in Pakistani children presenting at A tertiary care Centre. Cheema HA, Suleman H, Parkash A, Fayyaz Z. Journal of The College of Physician and Surgeons Pakistan 2016 volume 26 (6)-00.
Hepatitis A and E co-infection with worst outcome. Anjum Saeed, Huma Arshad, Asaad Assiri. J college of physicians and surgeons, Pakistan 2016;26:S31-S32.
Arit P, HA Cheema, H Suleman, Z Fayyaz. Congenital Hepatic Fibrosis: clinical presentation laborites feature and management at A tertiary care hospital of Lahore J Pak Med Association volume 66, No. 08 August 2016.
Varying Faces and Presentations of Abdominal Tuberculosis in Children – A Study from a tertiary care referral centre of a Developing Country. Huma Arshad Cheema, Hassan Suleman Malik, Zafar Fayyaz, Arit Parkash, Nadia Waheed, Iqra Mushtaq, Muhammad Almas Hashmi, Aftab Anwar; Infectious Diseases Journal of Pakistan April to Jun 2015, Volume 24, Issue 02.
Frequency of Common Clinical Presentations of Celiac Disease in Children. Khuhro AA, Cheema HA, Parkash A – European Academic Research 2015; II(10):13223-31.
Safety of Outpatient Blind Percutaneous Liver Biopsy (OBPLB) in Children and to Document the Spectrum of Pediatric Liver Disease Pakistan Pediatric Journal. Cheema HA, Parkash A, Malik HS, Fayyaz Z. Vol. 39(1) March, 2015 Print: ISSN 0304 4904.
Malakoplakia of Colon: A Case Report from Tertiary Care Centre. Mushtaq I, Cheema HA, Malik HS, Fayyaz Z, Waheed N. Pakistan Pediatric Journal Vol. 39(3) September, 2015 Print: ISSN 0304 4904.
Clinical presentation and biochemical findings in children with glycogen storage disease type IA. Anjum Saeed, Cheema HA, Arshad Alvi,; Pak Armed Force Med. J 2015;65(5):682-85.
Clinical presentation, etiology and complications of pancreatitis in children. Fayyaz Z., Cheema HA, , Parkash A; (Journal of Ayub Medical College) J Ayub Med Coll Abbottabad 2015-27(3).
Galactosemia: Clinical manifestations, diagnosis and outcome of early management. Huma Arshad Cheema, Hassan Suleman Malik, Arit Parkash, Zafar Fayyaz. 2015 Pakistan Pediatric Journal. October-December 2015 Annals of PIMS.
Etiology, Prognostic Factors and Outcome of Fulminant Hepatic Failure. Infectious disease journal of Pakistan. October to December 2014, volume 23, issue 04, 763-768.
Etiology and Management of Bleeding Esophageal Varices in Children: Our Experience at Tertiary Care Hospital. Cheema HA, Saeed A, Parkash A, Malik HS, Fayyaz Z. Pakistan Pediatric Journal Vol. 38(4), 2014 Print: ISSN 0304 4904.
Atypical Presentations of Hepatitis A in Children Presenting to The Children Hospital Lahore, Pakistan. Cheema HA, Fayyaz Z, Parkash A, Malik HS. Infectious diseases journal July – September 2014 Volume 23 Issue 03.
Gastro esophageal Reflux Disease: Review of Pathogenesis, Clinical presentation, Diagnosis and its Management in Infants and Children. HA Cheema, Arit P; Pak Ped Rev, 2014;2(3) 126-138
Evaluation of chronic Diarrhea in children. HA Cheema, Suleman H; Pak Ped Rev, 2014;2(3) 119-125.
Evaluation and management of chronic abdominal pain in children. Cheema HA; Pak Ped Rev, 2014;2(3) 111-118.
Inflammatory bowel disease in children and adolescents. Cheema HA; Pak Ped Rev, 2014;2(3) 139-145.
Cow’s milk protein allergy (CMPA) review of epidemiology, clinical presentation, management and approach to milk protein allergy in infants and children. Cheema HA, Arit Parkash; Pak Ped Rev, 2014;2(3) 146-157.
Pediatric Gastroenterological Diseases in Pakistan–A Better Understanding for Better Management. Cheema HA Editorial; Pak Pediatr J 2013; 37(2): 71-73.
Celiac Disease-An Under Reported Entity in Northern Pakistan. Cheema HA, Arshad R, Zaidi Z. Pak Pediatr J 2013; 37(2): 86-90.
Detection of common mutations in the GALT gene through ARMS. Mahmood U, Imran MNaik SI, Cheema HA, Saeed A, Arshad M, Mahmood S. Gene. 2012 Nov 10; 509(2):291-294. doi: 10.1016/j.Gene .2012.08.010. Epub 2012 Aug 16.
Etiology presentation and management of liver abscesses at the children’s Hospital Lahore. Cheema HA. Annals of king Edward Med coll vol 14 No 4 (2008)
Hookworm infestation in children presenting with Melena. Cheema HA, Saeed Anjum. Pakistan Journal of Medical Research, 47(4), 98-100.
Wilson’s disease: an under diagnosed entity in Pakistani Children. Cheema HA. J Pediatr Gastroenterol Nutr, Volume 44 Suppl 1.May 2007.e1–e360
Majority of liver abscesses in children are pyogenic and not amebic in origin. Cheema HA, Saeed A. J Pediatr Gastroenterol Nutr, Volume 44 Suppl 1. May 2007.e1–e360
Recommendations for the Treatment of Chronic Hepatitis B infection in children. Shah U, Memon I, Cheema HA Tobani S, et al. J Pak Med Assoc 2007; 57(4): 204-7.
Recommendations for the treatment of chronic Hepatitis C infection in children. Mirza R, Memon I, Cheema H A, Salman Ali , Sohail Thobani, Uzma Shah. J Pak Med Assoc 2007; 57(8): 419-20
Endoscopic Balloon Dilatation of Esophageal Strictures in Children. Cheema HA. Ann King Edward Med Coll Dec 2006;12(4):408-11.
Galactosaemia – presentation, diagnosis and management. Cheema H A. Biomedica Jun 2004; 20(1):45-7.
Misses and near misses: Drug administration errors. Cheema HA, Majeed H, Cheema MA. Ann King Edward Med Coll Jun 2004; 10(2):34.
Diagnosis, management and outcome of Wilson’s disease in children. Cheema HA. Pak J Gastroenterology 2004; 18(1):19-23.
Spectrum of organic acidemias – clinical parameters, laboratory data, out come and long term follow up. Waheed N, Cheema HA, Saeed A. accepted for publication Journal of Pakistan Armed Forces.
Clinical and genetic description of hereditary chronic pancreatitis in Pakistani children. Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed. Journal of college of physicians and surgeons, Pakistan.
Frequency of Acute Pancreatitis, causes, complications and outcome from a tertiary care hospital. Saeed A, Cheema HA, Hamdani SS. Submitted to Pakistan Pediatric Journal.
A young girl with dysphagia lusoria. Saeed A, Cheema HA, Batool SS. Pakistan Pediatric Journal.
Clinical characteristics, genotype and outcome of Gaucher disease in Pakistani children. Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed. Journal of college of physicians and surgeons, Pakistan.
Frequency of celiac disease with recurrent abdominal pain in Saudi children. Saeed A, Assiri A, Cheema HA. Saudi Medical Journal.
Celiac disease complicating with inflammatory bowel disease. Saeed A, Assiri A, Cheema HA. Submitted to Saudi Medical journal.
Chylous disorders in children: a rare entity. Batool SS, Saeed A, Cheema HA. Submitted to Pakistan Pediatric Journal.
Kleefstra Syndrome with Severe Sensory Neural Deafness and de Novo Novel Mutation. Waheed N, Saeed A, Cheema HA. accepted for publication JCPSP
Tricho-Hepato-Eenteric Syndrome in Two Pakistani Children; Phenotype Severity Depends on Genotype. Waheed N, Saeed A, Cheema HA. Submitted to JCPSP
Very Early Onset Inflammatory Bowel Disease; Spectrum of Clinical Presentation, Diagnostic Tools and Outcome in Children. Waheed N, Saeed A, Cheema HA. Submitted to Journal of college of physicians and surgeons, Pakistan.
Coprophagia in a young child. Waheed N, Saeed A, Cheema HA, Anjum MN, Fayyaz Z, Alvi MA, Batool SS. Accepted for publication in Journal of Adolescent Psychiatry
Utility of Endoscopy in Infantile Hypertrophic Pyloric Stenosis. Cheema H A. J Pak Med Assoc Oct 2003; 53(10):482-3.
Congenital enterocyte heparan sulphate deficiency causes massive albumin loss, secretory diarrhea and malabsorption. Murch SH, Winyard PJ, Koletzo S, Wehner B, Cheema HA, Ridson RA, Philips AD, Meadows N, Klein NJ, Walker-Smith JA.LANCET 1996; 347: 1299-92
Severe neuromuscular paralysis associated with hypophosphatemia. Anwar H. (Maiden Name). Ann Saudi Med 1993; 13(5): 456-7.