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1

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke,

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 772 KB

english, 2018

2

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Chike Bellarmine Item, Ivana Mihalek, Oliver Lichtarge, Anil Jalan, Julia Vodopiutz, Adolf Muhl, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 367 KB

english, 2007

3

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

Furhan Iqbal, Chike B. Item, Maria A. Vilaseca, Anil Jalan, Adolf Mühl, Maria L. Couce, Ana Duat, Maria P. Delgado, Joaquim Bosch, Alberto Puche, Jaume Campistol, Mercè Pineda, Olaf A. Bodamer

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

4

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, Rintu J. Jacob, Renu Saxena, Anil Jalan, Eric A. Sistermans, Saqib Mahmood, Ishwar Chander Verma

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

5

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option

Pérez, Belén, Gutiérrez-Solana, Luis González, Verdú, Alfonso, Merinero, Begoña, Yuste-Checa, Patricia, Ruiz-Sala, Pedro, Calvo, Rocio, Jalan, Anil, Marín, Laura López, Campos, Oscar, Ruiz, Maria Ánge

Journal:

Year:

2013

Language:

english

File:

PDF, 451 KB

english, 2013

6

Treatment of inborn errors of metabolism

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

7

Aicardi-Goutières Syndrome

Merchant, Rashid, Verma, Mitusha, Shah, Ami, Kulkarni, Shilpa, Jalan, Anil

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 230 KB

english, 2016

8

Interplay of degree correlations and cluster synchronization

Jalan, Sarika, Kumar, Anil, Zaikin, Alexey, Kurths, Jürgen

Journal:

Physical Review E

Year:

2016

Language:

english

File:

PDF, 344 KB

english, 2016

9

Birth and death of chimera: Interplay of delay and multiplexing

Ghosh, Saptarshi, Kumar, Anil, Zakharova, Anna, Jalan, Sarika

Journal:

EPL (Europhysics Letters)

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

10

Multiplexing topologies and time scales: The gains and losses of synchrony

Makovkin, Sergey, Kumar, Anil, Zaikin, Alexey, Jalan, Sarika, Ivanchenko, Mikhail

Journal:

Physical Review E

Year:

2017

Language:

english

File:

PDF, 978 KB

english, 2017

11

Challenging the flow of conventional wisdom-liver transplantation across blood group barriers

Jagadisan, Barath, Jalan, Aarti, Dhawan, Anil

Journal:

Pediatric Transplantation

Year:

2018

Language:

english

File:

PDF, 223 KB

english, 2018

12

Case 3: Refractory Seizures Continuing into Infancy in a Term Neonate with Definite History of Perinatal Asphyxia

Ramaswamy, Viraraghavan Vadakkencherry, Rao, Gajanan Venkat, Jalan, Anil, Suryanarayana, Nori, Pavan Kumar, DVN

Journal:

Year:

2018

Language:

english

File:

PDF, 636 KB

english, 2018

13

Management of urea cycle defects in a developing country

Jalan, Anil, Kudalkar, Ketki, Jalan, Rishikesh

Journal:

Journal of Pediatric Biochemistry

Year:

2016

Language:

english

File:

PDF, 349 KB

english, 2016

14

Explosive synchronization in frequency displaced multiplex networks

Jalan, Sarika, Kumar, Anil, Leyva, Inmaculada

Journal:

Chaos An Interdisciplinary Journal of Nonlinear Science

Year:

2019

Language:

english

File:

PDF, 1.98 MB

english, 2019

15

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India

Danda, Sumita, Mohan, Sony, Devaraj, Prabavathi, Dutta, Atanu K., Nampoothiri, Sheela, Yesodharan, Dhanya, Phadke, Shubha R., Jalan, Anil B., Thangaraj, K., Verma, Ishwar Chandra, Danda, Debashish, Je

Journal:

Clinical Rheumatology

Year:

2020

Language:

english

File:

PDF, 761 KB

english, 2020

16

Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Menon, Jagadeesh, Shanmugam, Naresh, Srinivas, Sripriya, Vij, Mukul, Jalan, Anil, Srinivas Reddy, Mettu, Rela, Mohamed

Journal:

Journal of Pediatric Genetics

Year:

2020

File:

PDF, 1.34 MB

2020