P039: Establishing a rare registry for inherited metabolic disorders at the biochemical genetic lab in Pakistan: A decade of data

P039: Establishing a rare registry for inherited metabolic disorders at the biochemical genetic lab in Pakistan: A decade of data

Bibliographic Details
Main Authors:	Lena Jafri, Muhammad Bilal, Hafsa Majid, Sibtain Ahmed, Azeema Jamil, Saba Mateen, Farhat Jahan, Akhtar Shah, Aysha Khan
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424000621

Similar Items

P040: Analytical and clinical validation of succinylacetone, amino Acids, and acylcarnitines in dried blood spots on tandem mass spectrometry in Pakistan
by: Lena Jafri, et al.
Published: (2024-01-01)

Solid-State Synthesis of Poly(3',4'-dimethoxy-2,2':5',2"- terthiophene): Comparison With Poly(terthiophene) and Poly(3',4'-ethylenedioxy-2,2':5',2"- terthiophene)
by: Ismayil Nurulla, et al.
Published: (2012-07-01)

The 'Mine Medical': an opportunity for preventative and primary care
by: Ewen McPhee
Published: (2023-01-01)

Enhancing specimen collection skills for dried blood spots through an immersive virtual learning environment: a cross-sectional study
by: Hafsa Majid, et al.
Published: (2024-01-01)

Embracing inclusivity: the case against the term 'citizen science'
by: Christine Christian, et al.
Published: (2024-12-01)

(2<em>E</em>)-3-[4-(1<em>H</em>-Benzimidazol-2-ylmethoxy)-3-methoxyphenyl]-1-(4,4''-difluoro-5'-methoxy-1,1':3',1''-terphenyl-4'-yl)prop-2-en-1-one
by: Balladka Kunhanna Sarojini, et al.
Published: (2012-07-01)

Comparison of the effectiveness of Bowen's system therapy and the combination therapy of Bowen's system and neurofeedback on reducing students' anxiety
by: zahra ranaee, et al.
Published: (2024-03-01)

The availability of general practice in Ireland's Mid-West Region: does the 'Inverse Care Law' still apply?
by: Petrus Jacobus Retief, et al.
Published: (2023-01-01)

'Consultas em dia': consultations at the day care center for the elderly
by: Maria João Nuno Lopes, et al.
Published: (2023-01-01)

The 'Snake song': a pilot study of musical intervention in Eswatini
by: Lee Erickson, et al.
Published: (2020-07-01)

‘It's mostly about the job' - putting the lens on specialist rural retention
by: Penny Allen, et al.
Published: (2020-03-01)

Synthesis, Molecular Docking and Preliminary in-Vitro Cytotoxic Evaluation of Some Substituted Tetrahydro-naphthalene (2',3',4',6'-Tetra-O-Acetyl-β-D-Gluco/-Galactopyranosyl) Derivatives
by: Maha S. Al-Mutairi, et al.
Published: (2012-04-01)

'COVID on Country': an innovative model safely supporting high-risk patients in Central Australia
by: Mardi Steere, et al.
Published: (2022-10-01)

What factors shape doctors' trustworthiness? Patients' perspectives in the context of hypertension care in rural Tanzania
by: Kahabi Isangula, et al.
Published: (2020-08-01)

Antioxidant Properties of cis-Z,Z'-3a.7a',7a.3a'-Dihydroxy-ligustilide on Human Umbilical Vein Endothelial Cells in Vitro
by: Xuedong Liu, et al.
Published: (2013-01-01)

'I cut toenails with scissors and trim it with sand paper'. Patients’ perspectives on diabetic foot complications
by: Suliana Saverio, et al.
Published: (2025-01-01)

Advancing medical laboratory practice in Pakistan: insights from a focus group study on technologists’ training needs
by: Fatima Muhammad Asad Khan, et al.
Published: (2024-08-01)

Assessing the knowledge, attitude and practice of osteoporosis among Pakistani women: A national social-media based survey.
by: Sibtain Ahmed, et al.
Published: (2023-01-01)

Advances in Brazil's National Forest Inventory
by: Ricardo da Silva Ribeiro, et al.
Published: (2024-10-01)

Publication dynamics: what can be done to eliminate barriers to publishing full manuscripts by the postgraduate trainees of a low-middle income country?
by: Hafsa Majid, et al.
Published: (2022-07-01)

Synthesis and Properties of Annulated 2-(Azaar-2-yl)- and 2,2'-Di(azaar-2-yl)-9,9'-spirobifluorenes
by: Jing Lu Liang, et al.
Published: (2013-11-01)

Synthesis of a Cholesteryl-HEG Phosphoramidite Derivative and Its Application to Lipid-conjugates of the Anti-HIV 5'TGGGAG3' Hotoda’s Sequence
by: Domenica Musumeci, et al.
Published: (2012-10-01)

Effect of COVID-19 Related Infodemic on Health of General Public of Pakistan
by: Azeema Noor , Tahira Sadiq
Published: (2021-09-01)

Synthesis and Crystal Structures of New 5,5'-Azotetrazolates
by: Gerhard Laus, et al.
Published: (2012-03-01)

Why is Pakistan a threat to “The Polio Eradication and Endgame Strategic Plan 2013–2018”? A look into the past decade
by: Tariq Khan, et al.
Published: (2016-01-01)

'I learnt so much about being active': experiences of people with rheumatoid arthritis on the impact of a physiotherapist-led intervention to encourage physical activity
by: Sean McKenna, et al.
Published: (2023-01-01)

Vitamin D and Calcium Pharmaceutical Supplements: All we Need to Know to Choose the Right One
by: Hafsa Majid, et al.
Published: (2024-06-01)

Factors associated with phosphate homeostasis in children with beta-thalassemia major: An analytical cross sectional study from Pakistan.
by: Lena Jafri, et al.
Published: (2025-01-01)

Fotograf udara : sortie 5/82 (025-039) [fotograf udara]

039. Obstructive Ileus Caused by Colitis Tuberculosa: A Case Report
by: Rizki Kurniati, et al.
Published: (2024-10-01)

2'-Deoxythymidine Adducts from the Anti-HIV Drug Nevirapine
by: M. Matilde Marques, et al.
Published: (2013-04-01)

2,2'-Thio-bis[(4-methylphenyl)-2-aminobenzoate]
by: Mortaza Rezaei, et al.
Published: (2012-06-01)

Insights from semi-structured interviews on integrating artificial intelligence in clinical chemistry laboratory practices
by: Lena Jafri, et al.
Published: (2024-02-01)

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry
by: Hannah Tamary, et al.
Published: (2010-08-01)

Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry
by: Kristensen MH, et al.
Published: (2020-06-01)

The Journey of National Cancer Registry in Pakistan
by: Ibrar Rafique, et al.
Published: (2023-07-01)

The Journey of National Cancer Registry in Pakistan
by: Ibrar Rafique, et al.
Published: (2023-07-01)

The Journey of National Cancer Registry in Pakistan
by: Ibrar Rafique, et al.
Published: (2023-07-01)

Anthophilous insects' seasonal variation in Corsican thermo-Mediterranean shrubland maquis
by: Pierre-Yves Maestracci, et al.
Published: (2025-03-01)

Application of the CDK9 inhibitor FIT-039 for the treatment of KSHV-associated malignancy
by: Tetsunori Sakamoto, et al.
Published: (2023-01-01)