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1.

Carbamylphosphate synthetase-I deficiency in a newborn: survival after early diagnosis and therapy.

Raghavan, K; Chabra, S; Mondkar, J; Aiyar, R; Ambani, L M; Fernandez, A.

Indian Pediatr ; 1991 May; 28(5): 551-4

Article in English | IMSEAR | ID: sea-14026

Subject(s)

Amino Acid Metabolism, Inborn Errors/blood , Ammonia/blood , Carbamoyl-Phosphate Synthase (Ammonia)/deficiency , Combined Modality Therapy , Female , Humans , Infant, Newborn , Time Factors

2.

Pyruvicacidemia.

Tibrewala, V N; Ambani, L M; Shah, S B; Apte, B N.

Indian Pediatr ; 1990 Sep; 27(9): 974-6

Article in English | IMSEAR | ID: sea-14229

Subject(s)

Biotin/therapeutic use , Humans , Infant , Male , Pyruvate Carboxylase Deficiency Disease/diagnosis

3.

Prenatal diagnosis of Tay-Sachs disease.

Ambani, L M; Bhatia, R S; Shah, S B; Apte, B N.

Indian Pediatr ; 1989 Oct; 26(10): 1052-3

Article in English | IMSEAR | ID: sea-11025

Subject(s)

Adult , Child, Preschool , Chorionic Villi Sampling , Female , Fetal Diseases/diagnosis , Humans , Infant , Pregnancy , Tay-Sachs Disease/diagnosis

4.

Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder.

Balsekar, M V; Ambani, L M; Bhatia, R S; Shah, S B; Apte, B N.

Indian Pediatr ; 1989 Jun; 26(6): 589-92

Article in English | IMSEAR | ID: sea-10690

Subject(s)

Amino Acid Metabolism, Inborn Errors/genetics , Ammonia/blood , Arginine/administration & dosage , Argininosuccinate Synthase/deficiency , Citrulline/blood , Female , Humans , India , Infant, Newborn

5.

Clinical, biochemical & cytogenetic studies in mental retardation.

Ambani, L M; Patel, Z M; Dhareshwar, S S; Krishnamurthy, D S; Moghe, M S; Mulye, V R; Gokarn, V V; Peter, J J; Shah, L P; Merchant, S M.

Article in English | IMSEAR | ID: sea-16467

Subject(s)

Chromosome Aberrations/complications , Chromosome Disorders , Humans , Intellectual Disability/etiology , Metabolic Diseases/complications , Syndrome

6.

Early amnion rupture spectrum--a case report.

Bhui, P S; Chawla, R K; Agarwal, R P; Ambani, L M; Raghavan, K R; Shah, S B; Madon, P; Dhareshwar, S S.

Indian J Pediatr ; 1983 Nov-Dec; 50(407): 675-7

Article in English | IMSEAR | ID: sea-78726

Subject(s)

Abnormalities, Multiple/etiology , Amnion , Amniotic Band Syndrome/etiology , Female , Fetal Membranes, Premature Rupture/complications , Humans , Infant, Newborn , Male , Pregnancy

7.

Evaluation of teratogenic potential of a combination of norethisterone and ethinyl estradiol in rats.

Joshi, N J; Ambani, L M; Munshi, S R.

Indian J Exp Biol ; 1983 Nov; 21(11): 591-6

Article in English | IMSEAR | ID: sea-61608

Subject(s)

Animals , Drug Synergism , Ethinyl Estradiol/toxicity , Female , Fetal Death , Fetus/drug effects , Humans , Male , Norethindrone/toxicity , Pregnancy , Rats , Teratogens

8.

Short rib-polydactyly syndrome (Majewski type).

Raghavan, K R; Ambani, L M; Patel, D N; Khare, D A.

Indian Pediatr ; 1983 Nov; 20(11): 870-3

Article in English | IMSEAR | ID: sea-10706

Subject(s)

Abnormalities, Multiple , Fingers/abnormalities , Humans , Infant, Newborn , Limb Deformities, Congenital , Male , Ribs/abnormalities , Syndrome , Toes/abnormalities

9.

Cytogenetic studies in primary amenorrhoea.

Mulye, V; Ambani, L; Shringi, M; Peter, J; Motashaw, N.

Article in English | IMSEAR | ID: sea-19456

Subject(s)

Amenorrhea/genetics , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Humans , Karyotyping/methods , Male

10.

Ambiguous genitalia.

Patel, Z M; Ambani, L M; Dalal, S J; Gokarn, V V; Desai, M P; Rao, C S; Suchak, R H; Joshi, U M.

Indian Pediatr ; 1983 Apr; 20(4): 279-84

Article in English | IMSEAR | ID: sea-12725

Subject(s)

Child, Preschool , Female , Genitalia/abnormalities , Disorders of Sex Development/genetics , Humans , Infant , Infant, Newborn , Karyotyping , Male , Disorders of Sex Development/genetics

11.

GM2-gangliosidosis, Type 2 (Sandhoff disease).

Varadkar, A M; Mahale, S D; Suchak, R H; Patel, Z M; Dhareshwar, S S; Ambani, L M.

Indian Pediatr ; 1983 Apr; 20(4): 302-5

Article in English | IMSEAR | ID: sea-15653

Subject(s)

Female , Hexosaminidases/blood , Humans , Infant , Leukocytes/enzymology , Sandhoff Disease/enzymology , beta-N-Acetylhexosaminidases

12.

Monozygotic twinning and sirenomelia.

Raghavan, K R; Ambani, L M; Ratnaparki, S K; Dhareshwar, S S; Khare, D A; Badbade, J N.

Indian Pediatr ; 1983 Apr; 20(4): 308-9

Article in English | IMSEAR | ID: sea-9782

Subject(s)

Abnormalities, Multiple/genetics , Diseases in Twins , Ectromelia/genetics , Female , Humans , Infant, Newborn , Intestines/abnormalities , Pregnancy , Truncus Arteriosus, Persistent/genetics , Twins , Twins, Monozygotic

13.

Inborn errors of metabolism in acutely sick children.

Dhareshwar, S S; Ambani, L M; Suchak, R H; Danthi, V.

Article in English | IMSEAR | ID: sea-20787

Subject(s)

Acids/urine , Amino Acids/blood , Ammonia/blood , Carbohydrates/urine , Child , Child, Preschool , Chromatography, Thin Layer , Female , Humans , Infant , Infant, Newborn , Male , Metabolism, Inborn Errors/diagnosis , Orotic Acid/urine

14.

Ambiguous genitalia in a male infant with persistent Mullerian structure syndrome.

Patel, Z M; Rao, C S; Gokarn, V V; Dalal, S J; Ambani, L M.

Indian Pediatr ; 1982 Nov; 19(11): 943-5

Article in English | IMSEAR | ID: sea-10946

Subject(s)

Consanguinity , Genitalia, Male/abnormalities , Humans , Infant , Male , Mullerian Ducts/pathology , Disorders of Sex Development/pathology , Syndrome

15.

Diagnosis and counselling in Conradi disease.

Merchant, R H; Shah, K N; Mehta, K P; Desai, M P; Patkar, S L; Ambani, L.

Indian J Pediatr ; 1982 Sep-Oct; 49(400): 767-9

Article in English | IMSEAR | ID: sea-80293

Subject(s)

Chondrodysplasia Punctata/diagnosis , Diagnosis, Differential , Female , Humans , Infant , Male

16.

Cataracts in Down syndrome.

Dhareshwar, S S; Gokarn, V V; Ambani, L M.

Indian Pediatr ; 1982 Jul; 19(7): 642

Article in English | IMSEAR | ID: sea-12121

Subject(s)

Cataract/complications , Down Syndrome/complications , Humans , Infant , Male

17.

GM1 gangliosidosis, type II.

Patel, Z M; Iyer, S S; Ambani, L M; Suchak, R H; Aggarwal, R P.

Indian Pediatr ; 1982 Feb; 19(2): 185-7

Article in English | IMSEAR | ID: sea-14649

Subject(s)

Child, Preschool , Female , Humans , India , Sandhoff Disease/diagnosis

18.

Modified FPG technique for demonstrating sister chromatid exchange (SCE).

Kulkarni, P S; Ambani, L M; Vaidya, A B.

J Postgrad Med ; 1982 Jan; 28(1): 9-12

Article in English | IMSEAR | ID: sea-117863

Subject(s)

Adult , Azure Stains/diagnosis , Crossing Over, Genetic , Female , Fluorescence , Humans , Male , Metaphase , Phenothiazines/diagnosis , Sister Chromatid Exchange

19.

Normocalcemic pseudohypoparathyroidism (Type II).

Patel, Z M; Ambani, L M; Shah, P; Sheth, A R; Merchant, S M.

Indian Pediatr ; 1981 Nov; 18(11): 828-32

Article in English | IMSEAR | ID: sea-9287

Subject(s)

Adolescent , Calcium/blood , Cyclic AMP/urine , Humans , Male , Parathyroid Hormone/administration & dosage , Phosphorus/urine , Pseudohypoparathyroidism/genetics

20.

Prenatal diagnosis of Meckel syndrome.

Patel, Z M; Iyer, S S; Khatkatay, M I; Mandlekar, A; Baxi, A J; Pai, R R; Joshi, U M; Ambani, L M.

Indian Pediatr ; 1981 Oct; 18(10): 762-3

Article in English | IMSEAR | ID: sea-11066

Subject(s)

Abnormalities, Multiple/diagnosis , Adult , Encephalocele/diagnosis , Female , Humans , Pregnancy , Prenatal Diagnosis/methods , Risk

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